Subacromial impingement is often characterized by a painful arc of abduction during examination. It can be challenging to distinguish between instability, impingement, and rotator cuff tears as they exist on a continuum. However, in this case, the absence of muscle weakness or pain on palpation suggests impingement rather than a rotator cuff tear. Chronic instability of the glenohumeral joint can lead to impingement syndrome, but the worsening pain and severity of symptoms, along with a painful arc, point more towards subacromial impingement. Acromioclavicular degeneration is typically associated with popping, swelling, clicking, or grinding, and a positive scarf test. Calcific tendinopathy may cause extreme pain that makes examination difficult, and there is significant tenderness on palpation.

Understanding Rotator Cuff Injuries

Rotator cuff injuries are a common cause of shoulder problems that can be classified into four types of disease: subacromial impingement, calcific tendonitis, rotator cuff tears, and rotator cuff arthropathy. The symptoms of a rotator cuff injury include shoulder pain that worsens during abduction.

The signs of a rotator cuff injury include a painful arc of abduction, which typically occurs between 60 and 120 degrees in cases of subacromial impingement. In cases of rotator cuff tears, the pain may be felt in the first 60 degrees of abduction. Additionally, tenderness over the anterior acromion may be present.

The anti-dsDNA test is highly specific for detecting lupus, making it useful in ruling out systemic lupus erythematosus if the results are negative. On the other hand, anti-CCP is utilized in diagnosing rheumatoid arthritis, while anti-La is primarily present in individuals with Sjogren’s syndrome. Although anti-La can also be found in those with lupus, it lacks specificity. Interestingly, infants born to mothers with anti-La and anti-Ro antibodies have an increased risk of developing neonatal lupus. ANCA is an antibody that targets neutrophils and is observed in patients with autoimmune vasculitis.

Systemic lupus erythematosus (SLE) can be investigated through various tests, including antibody tests. ANA testing is highly sensitive, making it useful for ruling out SLE, but it has low specificity. About 99% of SLE patients are ANA positive. Rheumatoid factor testing is positive in 20% of SLE patients. Anti-dsDNA testing is highly specific (>99%), but less sensitive (70%). Anti-Smith testing is also highly specific (>99%), but only 30% of SLE patients test positive. Other antibody tests include anti-U1 RNP, SS-A (anti-Ro), and SS-B (anti-La).

Monitoring of SLE can be done through various markers, including inflammatory markers such as ESR. During active disease, CRP levels may be normal, but a raised CRP may indicate an underlying infection. Complement levels (C3, C4) are low during active disease due to the formation of complexes that lead to the consumption of complement. Anti-dsDNA titres can also be used for disease monitoring, but it is important to note that they are not present in all SLE patients. Proper monitoring of SLE is crucial for effective management of the disease.

Patients who have been diagnosed with antiphospholipid syndrome and have not had a history of thrombosis are typically prescribed low-dose aspirin. This condition is characterized by CLOTS, which stands for clots, livedo reticularis, obstetric complications, and thrombocytopenia. Diagnosis is confirmed through blood tests that show thrombocytopenia, a prolonged APTT, and positive antiphospholipid antibodies such as anti-cardiolipin, anti-beta-2-glycoprotein-1 antibodies, and lupus anticoagulant. Treatment for Raynaud’s phenomena, which causes painful and pale fingers and toes in cold temperatures, involves daily nifedipine. Lifelong LMWH is not recommended, but lifelong warfarin is recommended for patients with antiphospholipid syndrome who have experienced a previous thrombotic event. LMWH may be an option during pregnancy.

Antiphospholipid syndrome is a condition that can be acquired and is characterized by a higher risk of both venous and arterial thrombosis, recurrent fetal loss, and thrombocytopenia. It can occur as a primary disorder or as a secondary condition to other diseases, with systemic lupus erythematosus being the most common. One important point to remember for exams is that antiphospholipid syndrome can cause a paradoxical increase in the APTT. This is due to an ex-vivo reaction of the lupus anticoagulant autoantibodies with phospholipids involved in the coagulation cascade. Other features of this condition include livedo reticularis, pre-eclampsia, and pulmonary hypertension.

Antiphospholipid syndrome can also be associated with other autoimmune disorders, lymphoproliferative disorders, and, rarely, phenothiazines. Management of this condition is based on EULAR guidelines. Primary thromboprophylaxis involves low-dose aspirin, while secondary thromboprophylaxis depends on the type of thromboembolic event. Initial venous thromboembolic events require lifelong warfarin with a target INR of 2-3, while recurrent venous thromboembolic events require lifelong warfarin and low-dose aspirin. Arterial thrombosis should be treated with lifelong warfarin with a target INR of 2-3.

Lateral knee pain in runners is often caused by iliotibial band syndrome. This condition can result in a sharp or burning sensation around the knee joint line. Meniscal tears, on the other hand, can cause joint locking, pain, and swelling. Patellofemoral syndrome may lead to knee cap pain that worsens with stair climbing and prolonged use. Meanwhile, rheumatoid arthritis usually affects the small joints in the hands and feet initially, causing stiffness, pain, and swelling in other joints as well.

Understanding Iliotibial Band Syndrome

Iliotibial band syndrome is a prevalent condition that causes lateral knee pain in runners. It affects approximately 10% of people who engage in regular running. The condition is characterized by tenderness 2-3 cm above the lateral joint line.

To manage iliotibial band syndrome, activity modification and iliotibial band stretches are recommended. These measures can help alleviate the pain and discomfort associated with the condition. However, if the symptoms persist, it is advisable to seek physiotherapy referral for further assessment and treatment.

In summary, iliotibial band syndrome is a common condition that affects runners. It is important to recognize the symptoms and seek appropriate management to prevent further complications. With the right treatment, individuals can continue to engage in running and other physical activities without experiencing pain and discomfort.

Ankylosing spondylitis is primarily managed through exercise and NSAIDs. NSAIDs are effective in relieving symptoms and preventing functional limitations, while regular exercise, including postural training, range of motion exercises, stretching, and recreational activities like swimming, can help reduce and prevent functional limitations.

To measure disease activity, the Ankylosing Spondylitis Disease Activity Score (ASDAS) is used, which categorizes disease activity as inactive, low, high, or very high. If a patient has persistently high disease activity despite conventional treatments with NSAIDs, anti-tumor necrosis factor (TNF) therapy may be considered. However, the disease activity must be at least high (≥2.1) on ASDAS to warrant biologic therapy.

Glucocorticoids are not recommended for patients with ankylosing spondylitis. Methotrexate may be prescribed if conventional treatment with NSAIDs does not control symptoms, specifically for persistent peripheral arthritis.

In severe cases where the disease has progressed, surgery may be necessary. Hip and spine surgery may be beneficial for select patients with persistent pain or severe limitation in mobility, neurologic impairment, or severe flexion deformities.

Investigating and Managing Ankylosing Spondylitis

Ankylosing spondylitis is a type of spondyloarthropathy that is associated with HLA-B27. It is more commonly seen in males aged 20-30 years old. Inflammatory markers such as ESR and CRP are usually elevated, but normal levels do not necessarily rule out ankylosing spondylitis. HLA-B27 is not a reliable diagnostic tool as it can also be positive in normal individuals. The most effective way to diagnose ankylosing spondylitis is through a plain x-ray of the sacroiliac joints. However, if the x-ray is negative but suspicion for AS remains high, an MRI can be obtained to confirm the diagnosis.

Management of ankylosing spondylitis involves regular exercise, such as swimming, and the use of NSAIDs as the first-line treatment. Physiotherapy can also be helpful. Disease-modifying drugs used for rheumatoid arthritis, such as sulphasalazine, are only useful if there is peripheral joint involvement. Anti-TNF therapy, such as etanercept and adalimumab, should be given to patients with persistently high disease activity despite conventional treatments, according to the 2010 EULAR guidelines. Ongoing research is being conducted to determine whether anti-TNF therapies should be used earlier in the course of the disease. Spirometry may show a restrictive defect due to a combination of pulmonary fibrosis, kyphosis, and ankylosis of the costovertebral joints.

AMA (Anti-mitochondrial antibodies)

Dermatomyositis is a condition that causes inflammation and muscle weakness, as well as distinct skin lesions. It can occur on its own or be associated with other connective tissue disorders or underlying cancers, particularly ovarian, breast, and lung cancer. Screening for cancer is often done after a diagnosis of dermatomyositis. Polymyositis is a variant of the disease that does not have prominent skin manifestations.

The skin features of dermatomyositis include a photosensitive macular rash on the back and shoulders, a heliotrope rash around the eyes, roughened red papules on the fingers’ extensor surfaces (known as Gottron’s papules), extremely dry and scaly hands with linear cracks on the fingers’ palmar and lateral aspects (known as mechanic’s hands), and nail fold capillary dilation. Other symptoms may include proximal muscle weakness with tenderness, Raynaud’s phenomenon, respiratory muscle weakness, interstitial lung disease (such as fibrosing alveolitis or organizing pneumonia), dysphagia, and dysphonia.

Investigations for dermatomyositis typically involve testing for ANA antibodies, which are positive in around 80% of patients. Approximately 30% of patients have antibodies to aminoacyl-tRNA synthetases, including antibodies against histidine-tRNA ligase (also called Jo-1), antibodies to signal recognition particle (SRP), and anti-Mi-2 antibodies.

ITP is a Type II hypersensitivity reaction where the body’s defective B cells produce IgM or IgG antibodies that attack platelets, causing thrombocytopenia. This is an antibody-mediated reaction where the antibodies directly attack host antigens.

Classification of Hypersensitivity Reactions

Hypersensitivity reactions are classified into four types according to the Gell and Coombs classification. Type I, also known as anaphylactic hypersensitivity, occurs when an antigen reacts with IgE bound to mast cells. This type of reaction is responsible for anaphylaxis and atopy, such as asthma, eczema, and hay fever. Type II, or cytotoxic hypersensitivity, happens when cell-bound IgG or IgM binds to an antigen on the cell surface. This type of reaction is associated with autoimmune hemolytic anemia, ITP, Goodpasture’s syndrome, and other conditions. Type III, or immune complex hypersensitivity, occurs when free antigen and antibody (IgG, IgA) combine to form immune complexes. This type of reaction is responsible for serum sickness, systemic lupus erythematosus, post-streptococcal glomerulonephritis, and extrinsic allergic alveolitis. Type IV, or delayed hypersensitivity, is T-cell mediated and is responsible for tuberculosis, graft versus host disease, allergic contact dermatitis, and other conditions.

In recent times, a fifth category has been added to the classification of hypersensitivity reactions. Type V hypersensitivity occurs when antibodies recognize and bind to cell surface receptors, either stimulating them or blocking ligand binding. This type of reaction is associated with Graves’ disease and myasthenia gravis. Understanding the different types of hypersensitivity reactions is important in diagnosing and treating various conditions. Proper identification of the type of reaction can help healthcare professionals provide appropriate treatment and management strategies.

The correct fundoscopy finding for anterior ischemic optic neuropathy (AION) is a swollen pale disc with blurred margins. This occurs due to a loss of blood supply to the optic nerve, which is commonly caused by temporal arthritis. It is important to recognize this finding as urgent IV steroids are required to prevent permanent visual loss. A cherry red spot on the macula is not associated with temporal arthritis, as it is a sign of central retinal artery occlusion. Macula edema and cupping of the optic disc are also not typically associated with temporal arthritis.

Temporal arthritis, also known as giant cell arthritis, is a condition that affects medium and large-sized arteries and is of unknown cause. It typically occurs in individuals over the age of 50, with the highest incidence in those in their 70s. Early recognition and treatment are crucial to minimize the risk of complications, such as permanent loss of vision. Therefore, when temporal arthritis is suspected, urgent referral for assessment by a specialist and prompt treatment with high-dose prednisolone is necessary.

Temporal arthritis often overlaps with polymyalgia rheumatica, with around 50% of patients exhibiting features of both conditions. Symptoms of temporal arthritis include headache, jaw claudication, and tender, palpable temporal artery. Vision testing is a key investigation in all patients, as anterior ischemic optic neuropathy is the most common ocular complication. This results from occlusion of the posterior ciliary artery, leading to ischemia of the optic nerve head. Fundoscopy typically shows a swollen pale disc and blurred margins. Other symptoms may include aching, morning stiffness in proximal limb muscles, lethargy, depression, low-grade fever, anorexia, and night sweats.

Investigations for temporal arthritis include raised inflammatory markers, such as an ESR greater than 50 mm/hr and elevated CRP. A temporal artery biopsy may also be performed, and skip lesions may be present. Treatment for temporal arthritis involves urgent high-dose glucocorticoids, which should be given as soon as the diagnosis is suspected and before the temporal artery biopsy. If there is no visual loss, high-dose prednisolone is used. If there is evolving visual loss, IV methylprednisolone is usually given prior to starting high-dose prednisolone. Urgent ophthalmology review is necessary, as visual damage is often irreversible. Other treatments may include bone protection with bisphosphonates and low-dose aspirin.

Polymyalgia rheumatica is not associated with an increase in creatine kinase levels. Instead, blood tests typically reveal signs of inflammation, such as elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate. These findings, combined with the patient’s medical history and demographic information, strongly suggest polymyalgia rheumatica as the diagnosis. In contrast, conditions such as polymyositis and dermatomyositis typically involve a significant rise in creatine kinase levels, and dermatomyositis also presents with a distinctive rash. Fibromyalgia does not typically show any signs of inflammation on blood tests. While statin-induced myopathy is a possibility based on the patient’s history, the absence of elevated creatine kinase levels makes this diagnosis less likely.

Polymyalgia Rheumatica: A Condition of Muscle Stiffness in Older People

Polymyalgia rheumatica (PMR) is a common condition that affects older people. It is characterized by muscle stiffness and elevated inflammatory markers. Although it is closely related to temporal arthritis, the underlying cause is not fully understood, and it does not appear to be a vasculitic process. PMR typically affects patients over the age of 60 and has a rapid onset, usually within a month. Patients experience aching and morning stiffness in proximal limb muscles, along with mild polyarthralgia, lethargy, depression, low-grade fever, anorexia, and night sweats.

To diagnose PMR, doctors look for raised inflammatory markers, such as an ESR of over 40 mm/hr. Creatine kinase and EMG are normal. Treatment for PMR involves prednisolone, usually at a dose of 15 mg/od. Patients typically respond dramatically to steroids, and failure to do so should prompt consideration of an alternative diagnosis.

Polymyalgia Rheumatica: A Condition of Muscle Stiffness in Older People

Polymyalgia rheumatica (PMR) is a common condition that affects older people. It is characterized by muscle stiffness and elevated inflammatory markers. Although it is closely related to temporal arthritis, the underlying cause is not fully understood, and it does not appear to be a vasculitic process. PMR typically affects patients over the age of 60 and has a rapid onset, usually within a month. Patients experience aching and morning stiffness in proximal limb muscles, along with mild polyarthralgia, lethargy, depression, low-grade fever, anorexia, and night sweats.

To diagnose PMR, doctors look for raised inflammatory markers, such as an ESR of over 40 mm/hr. Creatine kinase and EMG are normal. Treatment for PMR involves prednisolone, usually at a dose of 15 mg/od. Patients typically respond dramatically to steroids, and failure to do so should prompt consideration of an alternative diagnosis.

The most probable diagnosis for a child with a soft, painless swelling behind the knee is a Baker’s cyst. An anterior cruciate ligament tear usually occurs after a twisting injury, is painful, and does not typically present with a lump in the popliteal fossa. A popliteal artery aneurysm would be pulsatile and uncommon in children. A rhabdomyosarcoma is unlikely to be painless and may have other symptoms of systemic disease.

Understanding Baker’s Cysts

Baker’s cysts, also known as popliteal cysts, are not true cysts but rather a distension of the gastrocnemius-semimembranosus bursa. These cysts can be primary or secondary. Primary cysts are not associated with any underlying pathology and are typically seen in children. On the other hand, secondary cysts are associated with an underlying condition such as osteoarthritis and are typically seen in adults.

Baker’s cysts present as swellings in the popliteal fossa, which is located behind the knee. In some cases, the cyst may rupture, resulting in symptoms similar to those of a deep vein thrombosis, such as pain, redness, and swelling in the calf. However, most ruptures are asymptomatic.

In children, Baker’s cysts typically resolve on their own and do not require any treatment. However, in adults, it is important to treat the underlying cause where appropriate. Understanding the nature of Baker’s cysts and their associated symptoms can help individuals seek appropriate medical attention when necessary.

Common Causes of Elbow Pain

Elbow pain can be caused by a variety of conditions, each with their own characteristic features. Lateral epicondylitis, also known as tennis elbow, is characterized by pain and tenderness localized to the lateral epicondyle. Pain is worsened by resisted wrist extension with the elbow extended or supination of the forearm with the elbow extended. Episodes typically last between 6 months and 2 years, with acute pain lasting for 6-12 weeks.

Medial epicondylitis, or golfer’s elbow, is characterized by pain and tenderness localized to the medial epicondyle. Pain is aggravated by wrist flexion and pronation, and symptoms may be accompanied by numbness or tingling in the 4th and 5th finger due to ulnar nerve involvement.

Radial tunnel syndrome is most commonly due to compression of the posterior interosseous branch of the radial nerve, and is thought to be a result of overuse. Symptoms are similar to lateral epicondylitis, but the pain tends to be around 4-5 cm distal to the lateral epicondyle. Symptoms may be worsened by extending the elbow and pronating the forearm.

Cubital tunnel syndrome is due to the compression of the ulnar nerve. Initially, patients may experience intermittent tingling in the 4th and 5th finger, which may be worse when the elbow is resting on a firm surface or flexed for extended periods. Later, numbness in the 4th and 5th finger with associated weakness may occur.

Olecranon bursitis is characterized by swelling over the posterior aspect of the elbow, with associated pain, warmth, and erythema. It typically affects middle-aged male patients. Understanding the characteristic features of these conditions can aid in their diagnosis and treatment.

Adhesive capsulitis is the correct answer as it is commonly seen in middle-aged females, diabetic patients, and following trauma. The classic impairment in adhesive capsulitis is external rotation, both on active and passive movement. On the other hand, calcific tendonosis would present with bursitis, causing pain, restriction in movement, and a hot and swollen shoulder. Cervical nerve root entrapment would cause pain in the neck and/or shoulder, with possible radiation to the arm and impaired neck range of movement. Supraspinatus tendonosis and torn rotator cuff would primarily affect abduction, not external rotation.

Understanding Adhesive Capsulitis (Frozen Shoulder)

Adhesive capsulitis, commonly known as frozen shoulder, is a prevalent cause of shoulder pain that primarily affects middle-aged women. The exact cause of this condition is not yet fully understood. However, studies have shown that up to 20% of diabetics may experience an episode of frozen shoulder. Symptoms typically develop over several days, with external rotation being more affected than internal rotation or abduction. Both active and passive movement are affected, and patients usually experience a painful freezing phase, an adhesive phase, and a recovery phase. In some cases, the condition may affect both shoulders, which occurs in up to 20% of patients. The episode typically lasts between 6 months and 2 years.

Diagnosis of adhesive capsulitis is usually clinical, although imaging may be necessary for atypical or persistent symptoms. Unfortunately, no single intervention has been proven to improve the outcome in the long-term. However, there are several treatment options available, including nonsteroidal anti-inflammatory drugs (NSAIDs), physiotherapy, oral corticosteroids, and intra-articular corticosteroids.

A prolapsed disc is suspected based on the patient’s symptoms. However, even if an MRI scan confirms this diagnosis, the initial management would remain the same as most patients respond well to conservative treatment like physiotherapy.

Understanding Prolapsed Disc and its Features

A prolapsed lumbar disc is a common cause of lower back pain that can lead to neurological deficits. It is characterized by clear dermatomal leg pain, which is usually worse than the back pain. The pain is often aggravated when sitting. The features of the prolapsed disc depend on the site of compression. For instance, L3 nerve root compression can cause sensory loss over the anterior thigh, weak quadriceps, reduced knee reflex, and a positive femoral stretch test. On the other hand, L4 nerve root compression can lead to sensory loss in the anterior aspect of the knee, weak quadriceps, reduced knee reflex, and a positive femoral stretch test.

The management of prolapsed disc is similar to that of other musculoskeletal lower back pain. It involves analgesia, physiotherapy, and exercises. According to NICE, the first-line treatment for back pain without sciatica symptoms is NSAIDs +/- proton pump inhibitors, rather than neuropathic analgesia. If the symptoms persist after 4-6 weeks, referral for consideration of MRI is appropriate. Understanding the features of prolapsed disc can help in the diagnosis and management of this condition.

Leriche syndrome is a condition that typically affects men and is characterized by three main symptoms: claudication (painful cramping) in the buttocks and thighs, muscle wasting in the legs, and impotence caused by nerve paralysis in the L1 region. This condition is caused by atherosclerosis, which leads to blockages in the abdominal aorta and/or iliac arteries. Treatment involves addressing underlying risk factors such as high cholesterol and smoking cessation. Diagnosis is typically made through angiography.

Understanding Leriche Syndrome

Leriche syndrome is a condition that affects the iliac vessels, causing atheromatous disease that can compromise blood flow to the pelvic viscera. This can result in symptoms such as buttock claudication and impotence. To diagnose the condition, angiography is often used to identify any iliac occlusions. Treatment typically involves endovascular angioplasty and stent insertion to address the occlusions and improve blood flow.

In summary, Leriche syndrome is a condition that can have significant impacts on a patient’s quality of life. By understanding the symptoms and diagnostic and treatment options available, healthcare providers can help patients manage this condition effectively.

A knee injury caused by twisting can lead to a tear in the meniscus, potentially accompanied by a sprain in the medial collateral ligament. The affected knee would be swollen and tender to the touch, and a positive McMurray’s’s test (painful clicking) would also be present. Patella dislocation, which can result from direct trauma to the knee, is indicated by a positive patellar apprehension test rather than a positive McMurray’s’s test. Falling onto a bent knee can cause injury to the posterior cruciate ligament, which is indicated by a positive posterior drawer test. Hyperextension knee injury, on the other hand, most commonly results in a rupture of the anterior cruciate ligament, which is indicated by a positive anterior drawer test. Repeated jumping and landing on hard surfaces can lead to patella tendinopathy or ‘jumper’s knee’, which causes anterior knee pain that worsens with exercise and jumping over a period of 2-4 weeks.

Understanding Meniscal Tear and its Symptoms

Meniscal tear is a common knee injury that usually occurs due to twisting injuries. Its symptoms include pain that worsens when the knee is straightened, a feeling that the knee may give way, tenderness along the joint line, and knee locking in cases where the tear is displaced. To diagnose a meniscal tear, doctors may perform Thessaly’s test, which involves weight-bearing at 20 degrees of knee flexion while the patient is supported by the doctor. If the patient experiences pain on twisting the knee, the test is considered positive.

Exercise is known to improve inflammatory back pain, such as that seen in ankylosing spondylitis. This type of pain is typically worse in the morning or with rest, but eases with physical activity. Other causes of inflammatory back pain include rheumatoid arthritis. Difficulty with activities of daily living and insidious onset are non-specific and may be seen in other types of back pain. Ankylosing spondylitis is more common in men, but can still occur in women.

Ankylosing spondylitis is a type of spondyloarthropathy that is associated with HLA-B27. It is more commonly seen in young males, with a sex ratio of 3:1, and typically presents with lower back pain and stiffness that develops gradually. The stiffness is usually worse in the morning and improves with exercise, while pain at night may improve upon getting up. Clinical examination may reveal reduced lateral and forward flexion, as well as reduced chest expansion. Other features associated with ankylosing spondylitis include apical fibrosis, anterior uveitis, aortic regurgitation, Achilles tendonitis, AV node block, amyloidosis, cauda equina syndrome, and peripheral arthritis (more common in females).

Osteogenesis imperfecta, also known as brittle bone disease, typically presents with normal levels of adjusted calcium, PTH, ALP, and PO4. This group of disorders affects collagen metabolism, resulting in bone fragility and susceptibility to fractures. The mildest and most common form is type 1, which is usually diagnosed in childhood and may present with blue sclera, dental imperfections, and deafness due to otosclerosis.

Primary hyperparathyroidism may present with raised adjusted calcium and PTH levels, normal or raised ALP levels, and low PO4 levels. Hypoparathyroidism may present with low adjusted calcium and PTH levels, normal ALP levels, and raised PO4 levels. Secondary hyperparathyroidism may present with low adjusted calcium, high PTH levels, normal ALP levels, and variable PO4 levels. Malignant PTH-related protein, which can occur in certain cancers such as squamous cell lung cancer, may present with raised adjusted calcium, low PTH levels, raised ALP levels, and raised PO4 levels, with normal ALP levels also possible.

Osteogenesis imperfecta, also known as brittle bone disease, is a group of disorders that affect collagen metabolism, leading to bone fragility and fractures. The most common type of osteogenesis imperfecta is type 1, which is inherited in an autosomal dominant manner and is caused by a decrease in the synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides. This condition typically presents in childhood and is characterized by fractures that occur following minor trauma, as well as blue sclera, dental imperfections, and deafness due to otosclerosis.

When investigating osteogenesis imperfecta, it is important to note that adjusted calcium, phosphate, parathyroid hormone, and ALP results are usually normal. This condition can have a significant impact on a person’s quality of life, as it can lead to frequent fractures and other complications. However, with proper management and support, individuals with osteogenesis imperfecta can lead fulfilling lives.

The sensitivity of ANA is high, making it a valuable test for ruling out SLE, but its specificity is low. Anti-histone antibodies are typically utilized as an indicator for drug-induced SLE. ESR is not a serum antibody and is not employed for diagnosing or ruling out SLE.

Systemic lupus erythematosus (SLE) can be investigated through various tests, including antibody tests. ANA testing is highly sensitive, making it useful for ruling out SLE, but it has low specificity. About 99% of SLE patients are ANA positive. Rheumatoid factor testing is positive in 20% of SLE patients. Anti-dsDNA testing is highly specific (>99%), but less sensitive (70%). Anti-Smith testing is also highly specific (>99%), but only 30% of SLE patients test positive. Other antibody tests include anti-U1 RNP, SS-A (anti-Ro), and SS-B (anti-La).

Monitoring of SLE can be done through various markers, including inflammatory markers such as ESR. During active disease, CRP levels may be normal, but a raised CRP may indicate an underlying infection. Complement levels (C3, C4) are low during active disease due to the formation of complexes that lead to the consumption of complement. Anti-dsDNA titres can also be used for disease monitoring, but it is important to note that they are not present in all SLE patients. Proper monitoring of SLE is crucial for effective management of the disease.

If a patient has a known allergy to a sulfa drug like co-trimoxazole, they should avoid taking sulfasalazine.

Sulfasalazine: A DMARD for Inflammatory Arthritis and Bowel Disease

Sulfasalazine is a type of disease modifying anti-rheumatic drug (DMARD) that is commonly used to manage inflammatory arthritis, particularly rheumatoid arthritis, as well as inflammatory bowel disease. This medication is a prodrug for 5-ASA, which works by reducing neutrophil chemotaxis and suppressing the proliferation of lymphocytes and pro-inflammatory cytokines.

However, caution should be exercised when using sulfasalazine in patients with G6PD deficiency or those who are allergic to aspirin or sulphonamides due to the risk of cross-sensitivity. Adverse effects of sulfasalazine may include oligospermia, Stevens-Johnson syndrome, pneumonitis/lung fibrosis, myelosuppression, Heinz body anaemia, megaloblastic anaemia, and the potential to color tears and stain contact lenses.

Despite these potential side effects, sulfasalazine is considered safe to use during pregnancy and breastfeeding, making it a viable option for women who require treatment for inflammatory arthritis or bowel disease. Overall, sulfasalazine is an effective DMARD that can help manage the symptoms of these conditions and improve patients’ quality of life.

For individuals with recently diagnosed active rheumatoid arthritis, NICE advises initiating disease-modifying treatment as soon as feasible, utilizing methotrexate (or sulfasalazine or leflunomide) and oral steroids. During flare-ups, steroids (either oral or intra-articular) may be administered to alleviate symptoms, and patients may also be given paracetamol for pain management.

Managing Rheumatoid Arthritis with Disease-Modifying Therapies

The management of rheumatoid arthritis (RA) has significantly improved with the introduction of disease-modifying therapies (DMARDs) in the past decade. Patients with joint inflammation should start a combination of DMARDs as soon as possible, along with analgesia, physiotherapy, and surgery. In 2018, NICE updated their guidelines for RA management, recommending DMARD monotherapy with a short course of bridging prednisolone as the initial step. Monitoring response to treatment is crucial, and NICE suggests using a combination of CRP and disease activity to assess it. Flares of RA are often managed with corticosteroids, while methotrexate is the most widely used DMARD. Other DMARDs include sulfasalazine, leflunomide, and hydroxychloroquine. TNF-inhibitors are indicated for patients with an inadequate response to at least two DMARDs, including methotrexate. Etanercept, infliximab, and adalimumab are some of the TNF-inhibitors available, each with their own risks and administration methods. Rituximab and Abatacept are other DMARDs that can be used, but the latter is not currently recommended by NICE.

The sudden popping sound that occurred during athletic activity followed by knee pain, swelling, and instability is indicative of an ACL injury. This is the most likely answer based on the given information. A ruptured patella tendon would result in a high riding patella, while a ruptured medial meniscus would cause catching or locking of the knee. A ruptured posterior cruciate ligament is less common and would require further testing to differentiate from an ACL injury. However, based on the scenario described, an ACL injury is the most probable cause.

The anterior cruciate ligament (ACL) is a knee ligament that is frequently injured, with non-contact injuries being the most common cause. However, a lateral blow to the knee or skiing can also cause ACL injuries. Symptoms of an ACL injury include a sudden popping sound, knee swelling, and a feeling of instability or that the knee may give way. To diagnose an ACL injury, doctors may perform an anterior draw test or a Lachman’s test. During the anterior draw test, the patient lies on their back with their knee at a 90-degree angle, and the examiner pulls the tibia forward to assess the amount of anterior motion in comparison to the femur. An intact ACL should prevent forward translational movement. Lachman’s test is a variant of the anterior draw test, but the knee is at a 20-30 degree angle, and it is considered more reliable than the anterior draw test.

The observed symptoms indicate that the femoral nerve has been affected. Although nerve damage during instrumental delivery is uncommon, it can occur during challenging deliveries and mid-cavity forceps use. The table below outlines the nerves that may be impacted by forceps and the corresponding clinical manifestations.
Nerve Clinical features
Femoral nerve Weakness in extending the knee, absence of the patellar reflex, and numbness in the thigh
Lumbosacral trunk Weakness in dorsiflexing the ankle and numbness in the calf and foot.

Selected Facts about Lower Limb Anatomy

The lower limb anatomy is a complex system that is often tested in medical examinations. One of the important aspects of this system is the nerves that control the motor and sensory functions of the lower limb. The femoral nerve, for example, controls knee extension and thigh flexion, and is responsible for the sensation in the anterior and medial aspect of the thigh and lower leg. This nerve is commonly injured in cases of hip and pelvic fractures, as well as stab or gunshot wounds.

Another important nerve is the obturator nerve, which controls thigh adduction and provides sensation to the medial thigh. Injuries to this nerve can occur in cases of anterior hip dislocation. The lateral cutaneous nerve of the thigh, on the other hand, does not control any motor function but is responsible for the sensation in the lateral and posterior surfaces of the thigh. Compression of this nerve near the ASIS can lead to meralgia paraesthetica, a condition characterized by pain, tingling, and numbness in the distribution of the lateral cutaneous nerve.

The tibial nerve controls foot plantarflexion and inversion and provides sensation to the sole of the foot. This nerve is not commonly injured as it is deep and well-protected. The common peroneal nerve, which controls foot dorsiflexion and eversion, is often injured at the neck of the fibula, resulting in foot drop. The superior gluteal nerve controls hip abduction and is commonly injured in cases of misplaced intramuscular injection, hip surgery, pelvic fracture, or posterior hip dislocation. Injury to this nerve results in a positive Trendelenburg sign. Finally, the inferior gluteal nerve controls hip extension and lateral rotation and is generally injured in association with the sciatic nerve. Injury to this nerve results in difficulty rising from a seated position, as well as an inability to jump or climb stairs.

Surgical fixation is necessary for all proximal scaphoid pole fractures, including Colin’s injury. Referral to physiotherapy would not be sufficient for managing this type of fracture, as the risk of avascular necrosis is high. Removing the Futuro splint without further intervention would also be inappropriate, as imaging has shown that the fracture has not yet healed. However, if the fracture were an undisplaced scaphoid fracture not involving the proximal pole, immobilization of the wrist in a Futuro splint or below-elbow cast for an additional 6 weeks would be appropriate.

Understanding Scaphoid Fractures

A scaphoid fracture is a type of wrist fracture that typically occurs when a person falls onto an outstretched hand or during contact sports. It is important to recognize this type of fracture due to the unusual blood supply of the scaphoid bone. Interruption of the blood supply can lead to avascular necrosis, which is a serious complication. Patients with scaphoid fractures typically present with pain along the radial aspect of the wrist and loss of grip or pinch strength. Clinical examination is highly sensitive and specific when certain signs are present, such as tenderness over the anatomical snuffbox and pain on telescoping of the thumb.

Plain film radiographs should be requested, including scaphoid views, but the sensitivity in the first week of injury is only 80%. A CT scan may be requested in the context of ongoing clinical suspicion or planning operative management, while MRI is considered the definite investigation to confirm or exclude a diagnosis. Initial management involves immobilization with a splint or backslab and referral to orthopaedics. Orthopaedic management depends on the patient and type of fracture, with undisplaced fractures of the scaphoid waist typically treated with a cast for 6-8 weeks. Displaced scaphoid waist fractures require surgical fixation, as do proximal scaphoid pole fractures. Complications of scaphoid fractures include non-union, which can lead to pain and early osteoarthritis, and avascular necrosis.

A Salter-Harris type 4 fracture involves the physis, metaphysis, and epiphysis.

Paediatric Fractures and Pathological Conditions

Paediatric fractures can be classified into different types based on the injury pattern. Complete fractures occur when both sides of the cortex are breached, while greenstick fractures only have a unilateral cortical breach. Buckle or torus fractures result in incomplete cortical disruption, leading to a periosteal haematoma. Growth plate fractures are also common in paediatric practice and are classified according to the Salter-Harris system. Injuries of Types III, IV, and V usually require surgery and may be associated with disruption to growth.

Non-accidental injury is a concern in paediatric fractures, especially when there is a delay in presentation, lack of concordance between proposed and actual mechanism of injury, multiple injuries, injuries at sites not commonly exposed to trauma, or when children are on the at-risk register. Pathological fractures may also occur due to genetic conditions such as osteogenesis imperfecta, which is characterized by defective osteoid formation and failure of collagen maturation in all connective tissues. Osteopetrosis is another pathological condition where bones become harder and more dense, and radiology reveals a lack of differentiation between the cortex and the medulla, described as marble bone.

Overall, paediatric fractures and pathological conditions require careful evaluation and management to ensure optimal outcomes for the child.

When patients present with back pain, thoracic pain should be considered a warning sign. In this particular case, the patient’s back pain has several red-flag features, including its location in the middle of the back, sudden onset and progression, night pain, and recent prostate exam results. These symptoms are highly indicative of metastatic prostate cancer with spinal cord compression, which is a medical emergency. Immediate hospital assessment is necessary, along with a whole-body MRI and treatment such as high dose dexamethasone, radiotherapy, and surgery if needed. Any response that fails to recognize the urgency of this situation is incorrect.

Lower back pain is a common issue that is often caused by muscular strain. However, it is important to be aware of potential underlying causes that may require specific treatment. Certain red flags should be considered, such as age under 20 or over 50, a history of cancer, night pain, trauma, or systemic illness. There are also specific causes of lower back pain that should be kept in mind. Facet joint pain may be acute or chronic, worse in the morning and on standing, and typically worsens with back extension. Spinal stenosis may cause leg pain, numbness, and weakness that is worse on walking and relieved by sitting or leaning forward. Ankylosing spondylitis is more common in young men and causes stiffness that is worse in the morning and improves with activity. Peripheral arterial disease may cause pain on walking and weak foot pulses. It is important to consider these potential causes and seek appropriate diagnosis and treatment.

Patients diagnosed with antiphospholipid syndrome and a history of unprovoked thrombosis should receive lifelong warfarin as the preferred long-term anticoagulant. While unfractionated heparin or low molecular weight heparin may be used for acute episodes of thrombosis, they are not recommended for long-term anticoagulation in this condition. Failure to provide anticoagulation therapy to these patients is inappropriate due to their high risk of recurrent thrombosis. Additionally, the MHRA has advised against the use of direct-acting oral anticoagulants like rivaroxaban for long-term therapy in antiphospholipid syndrome patients due to an increased risk of thrombotic events compared to warfarin. Therefore, rivaroxaban is not a suitable management option.

Antiphospholipid syndrome is a condition that can be acquired and is characterized by a higher risk of both venous and arterial thrombosis, recurrent fetal loss, and thrombocytopenia. It can occur as a primary disorder or as a secondary condition to other diseases, with systemic lupus erythematosus being the most common. One important point to remember for exams is that antiphospholipid syndrome can cause a paradoxical increase in the APTT. This is due to an ex-vivo reaction of the lupus anticoagulant autoantibodies with phospholipids involved in the coagulation cascade. Other features of this condition include livedo reticularis, pre-eclampsia, and pulmonary hypertension.

Antiphospholipid syndrome can also be associated with other autoimmune disorders, lymphoproliferative disorders, and, rarely, phenothiazines. Management of this condition is based on EULAR guidelines. Primary thromboprophylaxis involves low-dose aspirin, while secondary thromboprophylaxis depends on the type of thromboembolic event. Initial venous thromboembolic events require lifelong warfarin with a target INR of 2-3, while recurrent venous thromboembolic events require lifelong warfarin and low-dose aspirin. Arterial thrombosis should be treated with lifelong warfarin with a target INR of 2-3.

The patient is experiencing bone pain, tenderness, and proximal myopathy, which are indicative of osteomalacia. This condition is caused by a lack of vitamin D, which leads to decreased bone mineralization and softening of the bones. Unlike other bone disorders, osteomalacia can cause joint and bone pain as well as muscle weakness, particularly in the form of proximal myopathy. Osteopenia, on the other hand, is characterized by low bone density and typically precedes osteoporosis. While patients with osteopenia are at risk of bone fractures, the condition itself does not usually cause symptoms such as pain or weakness. Similarly, osteoporosis is a more severe form of reduced bone mass that increases the risk of fractures but does not typically cause symptoms. Paget disease, which results from dysregulated bone remodeling, can cause bone pain but is often asymptomatic. The most common features of Paget disease include skull frontal bossing, headaches, and hearing loss, but joint pain, proximal weakness, and a waddling gait are not typically associated with this condition.

Understanding Osteomalacia

Osteomalacia is a condition that occurs when the bones become soft due to low levels of vitamin D, which leads to a decrease in bone mineral content. This condition is commonly seen in adults, while in growing children, it is referred to as rickets. The causes of osteomalacia include vitamin D deficiency, malabsorption, lack of sunlight, chronic kidney disease, drug-induced factors, inherited conditions, liver disease, and coeliac disease.

The symptoms of osteomalacia include bone pain, muscle tenderness, fractures, especially in the femoral neck, and proximal myopathy, which may lead to a waddling gait. To diagnose osteomalacia, blood tests are conducted to check for low vitamin D levels, low calcium and phosphate levels, and raised alkaline phosphatase levels. X-rays may also show translucent bands known as Looser’s zones or pseudofractures.

The treatment for osteomalacia involves vitamin D supplementation, with a loading dose often needed initially. Calcium supplementation may also be necessary if dietary calcium intake is inadequate. Understanding the causes, symptoms, and treatment options for osteomalacia is crucial in managing this condition effectively.

Inflammation of the tendons on the lateral side of the wrist and thumb leads to de Quervain’s tenosynovitis. To diagnose this condition, Finkelstein’s test can be performed by quickly deviating the hand medially. If there is a sharp pain along the distal radius, it is indicative of de Quervain’s tenosynovitis.

De Quervain’s Tenosynovitis: Symptoms, Diagnosis, and Treatment

De Quervain’s tenosynovitis is a condition that commonly affects women between the ages of 30 and 50. It occurs when the sheath containing the extensor pollicis brevis and abductor pollicis longus tendons becomes inflamed. The condition is characterized by pain on the radial side of the wrist, tenderness over the radial styloid process, and pain when the thumb is abducted against resistance. A positive Finkelstein’s test, in which the thumb is pulled in ulnar deviation and longitudinal traction, can also indicate the presence of tenosynovitis.

Treatment for De Quervain’s tenosynovitis typically involves analgesia, steroid injections, and immobilization with a thumb splint (spica). In some cases, surgical treatment may be necessary. With proper diagnosis and treatment, most patients are able to recover from this condition and resume their normal activities.

Syndesmophytes, which are ossifications of the outer fibers of the annulus fibrosus, are a common feature of ankylosing spondylitis. This patient is exhibiting symptoms of inflammatory joint pain, which is most likely caused by ankylosing spondylitis given his age, gender, and the nature of his pain. Plain x-rays can reveal the presence of ossifications within spinal ligaments or intervertebral discs’ annulus fibrosus. It is incorrect to assume that his symptoms would not improve with naproxen, as NSAIDs are commonly used to alleviate inflammatory joint pain. A bamboo spine on plain x-ray is a rare late sign that is not typically seen in clinical practice. While ankylosing spondylitis may be associated with apical lung fibrosis, this would present as a restrictive defect on spirometry, not an obstructive one.

Investigating and Managing Ankylosing Spondylitis

Ankylosing spondylitis is a type of spondyloarthropathy that is associated with HLA-B27. It is more commonly seen in males aged 20-30 years old. Inflammatory markers such as ESR and CRP are usually elevated, but normal levels do not necessarily rule out ankylosing spondylitis. HLA-B27 is not a reliable diagnostic tool as it can also be positive in normal individuals. The most effective way to diagnose ankylosing spondylitis is through a plain x-ray of the sacroiliac joints. However, if the x-ray is negative but suspicion for AS remains high, an MRI can be obtained to confirm the diagnosis.

Management of ankylosing spondylitis involves regular exercise, such as swimming, and the use of NSAIDs as the first-line treatment. Physiotherapy can also be helpful. Disease-modifying drugs used for rheumatoid arthritis, such as sulphasalazine, are only useful if there is peripheral joint involvement. Anti-TNF therapy, such as etanercept and adalimumab, should be given to patients with persistently high disease activity despite conventional treatments, according to the 2010 EULAR guidelines. Ongoing research is being conducted to determine whether anti-TNF therapies should be used earlier in the course of the disease. Spirometry may show a restrictive defect due to a combination of pulmonary fibrosis, kyphosis, and ankylosis of the costovertebral joints.