NICE recommends regular monitoring of HbA1c every 2-6 months, based on individual requirements, until the patient is stable on a consistent therapy.

Understanding Glycosylated Haemoglobin (HbA1c) in Diabetes Mellitus

Glycosylated haemoglobin (HbA1c) is a commonly used measure of long-term blood sugar control in diabetes mellitus. It is produced when glucose attaches to haemoglobin in red blood cells at a rate proportional to the concentration of glucose in the blood. The level of HbA1c is influenced by the lifespan of red blood cells and the average blood glucose concentration. However, certain conditions such as sickle-cell anaemia, GP6D deficiency, and haemodialysis can interfere with accurate interpretation of HbA1c levels.

HbA1c is believed to reflect blood glucose levels over the past 2-4 weeks, although it is generally thought to represent the previous three months. It is recommended that HbA1c be checked every 3-6 months until stable, and then every 6 months. The Diabetes Control and Complications Trial (DCCT) has studied the complex relationship between HbA1c and average blood glucose levels.

The International Federation of Clinical Chemistry (IFCC) has developed a new standardised method for reporting HbA1c, which reports HbA1c in mmol per mol of haemoglobin without glucose attached. The table above shows the relationship between HbA1c, average plasma glucose, and IFCC-HbA1c. By using this table, one can calculate the average plasma glucose level by using the formula: average plasma glucose = (2 * HbA1c) – 4.5.

Systemic lupus erythematosus (SLE) can be investigated through various tests, including antibody tests. ANA testing is highly sensitive and 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 has a lower sensitivity (30%). Other antibody tests that can be used 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, and 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. Overall, these investigations can help diagnose and monitor SLE, allowing for appropriate management and treatment.

After a prostatectomy, the PSA level should be undetectable, meaning it should be less than 0.2ng/ml. If the PSA level is 2 after 3 months (even though it falls within the normal range for untreated patients), it is still considered significantly high and requires immediate referral to oncology for further examination.

PSA Testing for Prostate Cancer

Prostate specific antigen (PSA) is an enzyme produced by the prostate gland, and it is used as a tumour marker for prostate cancer. However, there is still much debate about its usefulness as a screening tool. The NHS Prostate Cancer Risk Management Programme (PCRMP) has published guidelines on how to handle requests for PSA testing in asymptomatic men. The National Screening Committee has decided not to introduce a prostate cancer screening programme yet, but rather allow men to make an informed choice.

The PCRMP has recommended age-adjusted upper limits for PSA, while NICE Clinical Knowledge Summaries suggest a lower threshold for referral. However, PSA levels may also be raised by other conditions such as benign prostatic hyperplasia, prostatitis, urinary tract infection, ejaculation, vigorous exercise, urinary retention, and instrumentation of the urinary tract.

PSA testing has poor specificity and sensitivity, and various methods are used to try and add greater meaning to a PSA level, including age-adjusted upper limits and monitoring change in PSA level with time. It is important to note that digital rectal examination may or may not cause a rise in PSA levels, which is a matter of debate.

Differentiating between immunodeficiency disorders in a pediatric patient

This patient presents with symptoms of immunodeficiency, including hypocalcaemia, developmental delay, facial dysmorphism, and feeding difficulties. The differential diagnosis includes DiGeorge syndrome, selective immunoglobulin A (IgA) deficiency, Bruton’s agammaglobulinaemia, common variable immunodeficiency (CVID), and physiological hypogammaglobulinaemia of infancy.

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic syndrome that commonly presents with mild immunodeficiency due to reduced thymus function or absence of a thymus. Facial dysmorphism, such as low-set ears, hypertelorism, and hooded eyelids, is also common.

Selective IgA deficiency is the most common primary antibody deficiency and may be associated with autoimmune disease or allergies. It is not associated with characteristic facies or low calcium.

Bruton’s agammaglobulinaemia is an X-linked immunodeficiency that presents with severe respiratory tract infections in male infants. It is unlikely in this case as the patient is female with a different clinical picture.

CVID is the most common primary immunodeficiency in adults and presents with recurrent bacterial infections. It is not associated with the characteristic facies described here or developmental delay, feeding difficulties, or hypocalcaemia.

Physiological hypogammaglobulinaemia of infancy is a common phenomenon where babies gradually lose their mother’s immunoglobulin G and replace it with their own. It is not associated with any additional facial features, blood abnormalities, or developmental or feeding delay.

Therefore, a thorough evaluation and testing are necessary to differentiate between these immunodeficiency disorders in this pediatric patient.

Aripiprazole is the preferred first-line medication for schizophrenia due to its tolerable side effect profile and ability to lower serum prolactin levels. This is particularly beneficial for patients with borderline-high prolactin levels, as other atypical antipsychotics can cause further elevation and associated symptoms such as hirsutism, galactorrhoea, and impotence.

Clozapine is another commonly used atypical antipsychotic, but is typically reserved for patients who have not responded adequately to two other antipsychotics. It may cause drowsiness, dizziness, dry mouth, restlessness, and headache, but doesn’t usually elevate prolactin levels.

Olanzapine should be used with caution in diabetic patients due to its potential for weight gain and elevated blood sugars. Aripiprazole may be a better choice for these patients.

Sertraline, on the other hand, is not used in the treatment of schizophrenia. It is a selective serotonin reuptake inhibitor indicated for depressive illnesses and obsessive-compulsive disorder.

Atypical antipsychotics are now recommended as the first-line treatment for patients with schizophrenia, as per the 2005 NICE guidelines. These agents have a significant advantage over traditional antipsychotics in that they cause fewer extrapyramidal side-effects. However, atypical antipsychotics can still cause adverse effects such as weight gain, hyperprolactinaemia, and clozapine-associated agranulocytosis. Elderly patients who take antipsychotics are at an increased risk of stroke and venous thromboembolism, according to the Medicines and Healthcare products Regulatory Agency.

Clozapine is one of the first atypical antipsychotics to be developed, but it carries a significant risk of agranulocytosis. Therefore, full blood count monitoring is essential during treatment. Clozapine should only be used in patients who are resistant to other antipsychotic medication. The BNF recommends introducing clozapine if schizophrenia is not controlled despite the sequential use of two or more antipsychotic drugs, one of which should be a second-generation antipsychotic drug, each for at least 6-8 weeks. Clozapine can cause adverse effects such as reduced seizure threshold, constipation, myocarditis, and hypersalivation. Dose adjustment of clozapine may be necessary if smoking is started or stopped during treatment.

The development of sinus tracts and fistulas can be a possible complication of hidradenitis suppurativa.

Understanding Hidradenitis Suppurativa

Hidradenitis suppurativa (HS) is a chronic skin disorder that causes painful and inflammatory nodules, pustules, sinus tracts, and scars in intertriginous areas. It is more common in women and typically affects adults under 40. HS occurs due to chronic inflammatory occlusion of folliculopilosebaceous units that obstructs the apocrine glands and prevents keratinocytes from properly shedding from the follicular epithelium. Risk factors include family history, smoking, obesity, diabetes, polycystic ovarian syndrome, and mechanical stretching of skin.

The initial manifestation of HS involves recurrent, painful, and inflamed nodules that can rupture and discharge purulent, malodorous material. The axilla is the most common site, but it can also occur in other areas such as the inguinal, inner thighs, perineal and perianal, and inframammary skin. Coalescence of nodules can result in plaques, sinus tracts, and ‘rope-like’ scarring. Diagnosis is made clinically.

Management of HS involves encouraging good hygiene and loose-fitting clothing, smoking cessation, and weight loss in obese patients. Acute flares can be treated with steroids or antibiotics, and surgical incision and drainage may be needed in some cases. Long-term disease can be treated with topical or oral antibiotics. Lumps that persist despite prolonged medical treatment are excised surgically. Complications of HS include sinus tracts, fistulas, comedones, scarring, contractures, and lymphatic obstruction.

HS can be differentiated from acne vulgaris, follicular pyodermas, and granuloma inguinale. Acne vulgaris primarily occurs on the face, upper chest, and back, whereas HS primarily involves intertriginous areas. Follicular pyodermas are transient and respond rapidly to antibiotics, unlike HS. Granuloma inguinale is a sexually transmitted infection caused by Klebsiella granulomatis and presents as an enlarging ulcer that bleeds in the inguinal area.

Overall, understanding HS is crucial for early diagnosis and effective management of this chronic and painful skin disorder.

Common Hand and Wrist Pathologies

The hand and wrist are complex structures that are prone to various pathologies. Three common conditions include osteoarthritis of the first carpometacarpal joint, scaphoid fractures, and De Quervain’s tenosynovitis.

Osteoarthritis of the first carpometacarpal joint is a prevalent condition in postmenopausal women. Symptoms include tenderness, stiffness, crepitus, swelling, and pain when the thumb is abducted. A characteristic clinical sign is squaring of the hand, caused by swelling, radial subluxation of the metacarpal, and atrophy of the thenar muscles.

Scaphoid fractures are relatively common and usually occur after a fall onto an outstretched hand. The proximal portion of the scaphoid lacks its blood supply, which can lead to avascular necrosis if a fracture leaves it isolated from the rest of the bone. This produces pain and tenderness on the radial side of the wrist, typically in the anatomical snuffbox, worsened by wrist movement.

De Quervain’s tenosynovitis is a stenosing tenosynovitis of the first dorsal compartment of the wrist. It presents with pain on the radial aspect of the wrist, accompanied by swelling and tenderness. Treatment involves splinting, with or without corticosteroid injection.

Monash University in Australia has developed a low-FODMAP diet to manage irritable bowel syndrome (IBS). FODMAPs are short-chain carbohydrates found in many foods that are poorly absorbed in the small intestine. They can cause diarrhoea by encouraging water intake into the small intestine or bloating by fermenting in the large bowel. A low-FODMAP diet has been shown to reduce symptoms of IBS such as bloating, abdominal pain, and irregular bowel habits. However, this diet is challenging to follow as it excludes many foods that contain oligo-, di-, mono-saccharides, and polyols, including various vegetables, fruits, and grains. Therefore, it is recommended to seek the advice of a dietician rather than initiating the diet without guidance. High-FODMAP foods to avoid include wheat, most dairy products (except aged cheeses), pulses, beans, onion, garlic, and excess fructose. The diet mainly consists of unprocessed meat/fish and low FODMAP vegetables and grains.

Managing irritable bowel syndrome (IBS) can be challenging and varies from patient to patient. The National Institute for Health and Care Excellence (NICE) updated its guidelines in 2015 to provide recommendations for the management of IBS. The first-line pharmacological treatment depends on the predominant symptom, with antispasmodic agents recommended for pain, laxatives (excluding lactulose) for constipation, and loperamide for diarrhea. If conventional laxatives are not effective for constipation, linaclotide may be considered. Low-dose tricyclic antidepressants are the second-line pharmacological treatment of choice. For patients who do not respond to pharmacological treatments, psychological interventions such as cognitive behavioral therapy, hypnotherapy, or psychological therapy may be considered. Complementary and alternative medicines such as acupuncture or reflexology are not recommended. General dietary advice includes having regular meals, drinking at least 8 cups of fluid per day, limiting tea and coffee to 3 cups per day, reducing alcohol and fizzy drink intake, limiting high-fiber and resistant starch foods, and increasing intake of oats and linseeds for wind and bloating.

Understanding Gingivitis and Periodontal Disease

Gingivitis is a common condition characterized by inflammation of the gums, often caused by dental plaque. If left untreated, it can progress to periodontitis, which affects the ligaments and bone supporting the teeth. Risk factors include poor oral hygiene, smoking, and diabetes. Treatment involves managing oral hygiene and using antiseptic mouthwashes, but it’s important to see a dentist for proper care.

Necrotising ulcerative gingivitis, also known as Vincent’s disease, is a painful form of gingivitis that can cause ulcers and bleeding. It’s caused by bacteria already present in the mouth and can be treated with antibiotics.

Periodontal disease is a common problem in HIV-infected patients and can present as necrotising ulcerative periodontitis or linear gingival erythema. These conditions can occur even in clean mouths with little plaque or tartar.

Bleeding gums can also be a symptom of leukaemia and platelet disorders. It’s important to seek medical attention if you experience persistent bleeding or other oral health issues.

Pseudoseizures: Understanding the Disorder

Pseudoseizure or dissociated non-epileptic attack disorder is a condition that primarily affects disturbed females, with a ratio of 8:1. This disorder is characterized by erratic movements, closed eyes, and resisted eye opening, which are not typical features of epilepsy. However, lateral tongue bite and incontinence may occur, which are common in epilepsy. Patients with pseudoseizures often resist and fight any intervention.

Individuals with pseudoseizures often have a history of abuse or previous illness behavior. These attacks frequently occur in doctors’ surgeries and out-patient departments, and they usually happen in the presence of others. Previous illness behavior is also common in individuals with pseudoseizures.

In summary, pseudoseizures are a disorder that can be challenging to diagnose and treat. Understanding the symptoms and characteristics of this disorder is crucial in providing appropriate care and support to individuals affected by it.