Bleeding time is related to platelet function, thus a decrease in platelet function, as seen in thrombocytopenia, DIC and von Willebrand disease in which platelet aggregation is defective, leads to an increase in bleeding time. It is not affected by a decrease or deficiency of any other clotting factors. Aspirin and other COX inhibitors prolong bleeding time along with warfarin and heparin.

The cerebellum plays an important role in the integration of sensory perception and motor output. Multiple neural pathways link the cerebellum with the motor cortex and the spinocerebellar tract. The cerebellum uses the constant feedback on body position to fine-tune the movements and integrates these pathways. The patient described here has a characteristic cerebellar tremor that is a slow, broad tremor of the extremities and occurs at the end of a purposeful movement.

Renal cell carcinoma is a kidney cancer that originates in the lining of the proximal convoluted tubule. It is the most common type of kidney cancer in adults, responsible for approximately 90–95% of cases. Renal cell carcinomas can be staged by using the American Joint Committee on Cancer (AJCC) TNM (tumour-node-metastasis) classification, as follows: Stage I: tumours that are 7 cm or smaller and confined to the kidney, Stage II: tumours that are larger than 7 cm but still confined to the kidney, Stage III: tumours extending into the renal vein or vena cava, involving the ipsilateral adrenal gland and/or perinephric fat, or which have spread to one local lymph node and Stage IV: tumours extending beyond Gerota’s fascia, to more than one local node, or with distant metastases Recent literature has questioned whether the cut-off in size between stage I and stage II tumours should be 5 cm instead of 7 cm. The patient’s cancer in this case is stage III.

The sternal angle is an important part where the second costal cartilage attaches to the sternum. Finding the sternal angle will help in finding the second costal cartilage and intercostal space.

This muscle arises from the medial two-thirds of the supraspinatus fossa and from the supraspinatus fascia. It is inserted into the highest impression on the greater tubercle of the humerus after passing over the upper part of the shoulder joint. It works with the deltoid to raise the arm from the side of the trunk and initiate abduction. It also assists in fixation of the head of the humerus in the glenoid cavity.

Pilar or Trichilemmal cysts are common dermal cysts. They occur in less than 10% of the population. Of all skin cysts, Pilar cysts are the most common cysts. Pilar cysts usually occur in areas with dense hair follicle so that they are most commonly seen on the head especially the scalp, but they can also be found on the face, head, and neck.
Trichilemmal cysts never give rise to malignant lesions. They are usually sporadic. The cysts contain keratin and are outlined by stratified squamous epithelium similar to what we see in the outer(external) root sheath of the hair follicle. Proliferating trichilemmal cysts are the tumour form of pilar cysts, and it would appear in less than 3% of all cases of pilar cysts, and it might ulcerate and may be locally aggressive.

Pilar cysts are lined by thick capsules containing small layers of cuboidal, dark-staining basal epithelial cells in a palisade arrangement without an obvious intercellular gap. Those cells coalesce with multiple layers of keratinocytes forming squamous epithelium; these cells showed more maturation with dense eosinophilic-staining keratin in the absence of a granular cell layer. Sometimes we might see some areas of calcifications. Keratin in the pilar cysts stains with antikeratin antibodies similar to that seen in keratin derived from human hair. Trichilemmal cysts might rupture and of their components will leak into the dermis leading to the formation of foreign-body reaction.
Trichilemmal cysts are usually asymptomatic unless they calcify or rupture their contents leading to inflammatory process and pain in the affected site. Sometimes, the presence of pilar cyst overpressure or bony prominence might lead to pain. Trichilemmal cysts usually present as flesh-coloured, smooth, mobile, firm, and well-circumscribed nodules. Family history is very important since this condition can have an autosomal dominant pattern of inheritance. Usually, they are slow-growing nodules but sometimes they increase in size rapidly and it would indicate infection or malignant transformation. Young females are affected more than males.

Epidural haematomas are usually caused by arterial bleeding, classically due to damage to the middle meningeal artery by a temporal bone fracture. Symptoms develop within minutes to several hours after the injury and consist of increasing headache, decreased level of consciousness, hemiparesis and pupillary dilation with loss of light reactivity. Around 15–20% of epidural hematomas are fatal.

The different types of diarrhoea are:
1. Secretory diarrhoea – Due to increased secretion or decreased absorption. There is minimal to no structural damage in this type. The most common cause is cholera toxin which stimulates secretion of anions (especially chloride), with sodium and water.
2. Osmotic diarrhoea – Due to increased osmotic load, there is water loss. This occurs in cases of maldigestion syndromes, such as coeliac or pancreatic disease.
3. Motility-related diarrhoea – Occurs in cases of abnormal gastrointestinal motility. Due to increased motility, there is poor absorption and this leads to diarrhoea. This is seen post-vagotomy or in diabetic neuropathy.
4. Inflammatory diarrhoea – Due to damage to the mucosa or brush border, there is a loss of protein-rich fluids and poor absorption. Features of all the above three types can be seen in this type. Aetiology includes bacterial, viral, parasitic infections or autoimmune problems including inflammatory bowel disease.

Repair of an inguinal hernia under local anaesthesia has a short operative time, and patients are usually ambulant immediately after. Furthermore, the family history of this patient is unlikely to be significant and therefore, he is at a very low risk of developing a pulmonary embolism (PE).

Deep vein thrombosis (DVT) may develop insidiously in many surgical patients. If left untreated, it may progress to PE. The following surgical patients are at increased risk of developing DVT:

1. Surgery greater than 90 minutes at any site or greater than 60 minutes if the procedure involves lower limbs or pelvis
2. Acute admissions with inflammatory process involving the abdominal cavity
3. Expected significant reduction in mobility
4. Age over 60 years
5. Known malignancy
6. Thrombophilia
7. Previous thrombosis
8. BMI >30 kg/m2
9. Taking hormone replacement therapy or contraceptive pills
10. Varicose veins with phlebitis

Thromboprophylaxis can be mechanical or therapeutic. The former includes:
1. Early ambulation after surgery: cheap and effective
2. Compression stockings (contraindicated in peripheral arterial disease)
3. Intermittent pneumatic compression devices
4. Foot impulse devices

Therapeutic agents for thromboprophylaxis are:
1. Low-molecular-weight heparin (LMWH)
2. Unfractionated heparin
3. Dabigatran

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period – if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

Cardiac muscle hypertrophy is seen in trained athletes as compared to the normal population. This hypertrophy results in higher stroke volume at rest and increased cardiac reserve (maximum cardiac output during exercise). However, the cardiac output at rest is almost the same in both trained and untrained people. This is because in trained athletes, the heart rate is slower, even up to 40-50 beats/min. There is minimal affect of athletic training on oxygen consumption and respiratory rate.

Retroperitoneal structures are those that are found behind the peritoneum. They include: kidneys, suprarenal glands, bladder, ureter, inferior vena cava, rectum, oesophagus (part of it), part of the pancreas, 2nd, 3rd and 4th parts of the duodenum and ascending and descending parts of the colon.

Bile salts are formed out of cholesterol in the liver cells. Occasionally, precipitation of cholesterol occurs resulting into cholesterol stones developing in the gall bladder.
These cholesterol gallstones are the most common type and account for 80% of all gallstones. Another type, accounting for 20% gallstones is pigment stones which are composed of bilirubin and calcium salts. Occasionally, stones of mixed origin are also seen.

The apical lymph node group won’t be removed which include 20 to 30 lymph nodes. They are grouped according to location. The lateral group, the anterior to pectoral group, the posterior or subscapular group, the central group, and the medial or apical group. The lateral, pectoral, and subscapular groups are found lateral to the pectoralis minor muscle. The central group is situated directly under that muscle. Thus, if all lymph nodes lateral to the medial edge of the pectoralis minor muscle are removed, all the above four groups will be removed. The apical group won’t be removed which is situated medial to the medial edge of the pectoralis minor muscle.

Meningiomas are a common benign intracranial tumour, and their incidence is higher in women between the ages of 40-60 years old. Many of these tumours are asymptomatic and are diagnosed incidentally, although some of them may have malignant presentations (less than 2% of cases). These benign tumours can develop wherever there is dura, over the convexities near the venous sinuses, along the base of the skull, in the posterior fossa and, within the ventricles.

Vitamin K is a fat soluble vitamin requiring fat metabolism to function properly to allow for its absorption. People with obstructive jaundice develop vitamin k deficiency as fat digestion is impaired. Vit K causes carboxylation of glutamate residue and hence regulates blood coagulation including: prothrombin (factor II), factors VII, IX, X, protein C, protein S and protein Z.

Juvenile polyps are benign hamartomas with neoplastic potential that are the most frequent gastrointestinal polyp of childhood, with the peak incidence between 3 and 5 years of age.. The presence of multiple juvenile polyps may indicate a premalignant condition commonly named juvenile polyposis coli or juvenile polyposis syndrome (JPS). In contrast, single or solitary juvenile polyps generally are considered benign sporadic lesions that confer little to no future risk of malignancy. Most frequent presentation is painless rectal bleeding. Other features include a prolapsing rectal mass and abdominal pain.

The parotid duct or Stensen duct is a duct and the route that saliva takes from the major salivary gland, the parotid gland into the mouth. The parotid duct is formed when several interlobular ducts—the largest ducts inside the parotid gland join. It emerges from the gland and runs forward along the lateral side of the masseter muscle. In this course, the duct is surrounded by the buccal fat pad. It takes a steep turn at the border of the masseter and passes through the buccinator muscle, opening into the vestibule of the mouth, between the cheek and the gums, at the parotid papilla, which lies across the second superior molar tooth.

This patient had endoscopy and biopsy done by different doctors and proton pump inhibitor therapy followed by repeat endoscopy and biopsy six months later which had no definite evidence of dysplasia.

British Society of Gastroenterology (BSG) guidelines state that for patients with Barrett’s oesophagus (BO) but without dysplasia, the recommended surveillance protocols are two yearly, four quadrant biopsies every 2 cm, but jumbo biopsies are not required.

Inflammation is the immediate response of the body towards infections or irritations. The cardinal signs of inflammation are 1. redness/rubor, 2. tumour/swelling, 3.dolar/pain, 4.calor/heat and organ dysfunction (function laesa). Inflammation has 2 components; vascular and cellular. Blood vessels dilate upstream of the inflamed area leading to the rubor and calor and constrict downstream, increasing pressure and causing fluid to leak out of the capillary, resulting in swelling. The cellular component includes infiltration by neutrophils. Leukocyte arrival and functions include; 1. margination: cells marginated from the centre to the periphery of the vessel, 2. rolling: selectins are upregulated on the vessel walls, 3. adhesion: upregulation of the adhesion molecules ICAM and VCAM on the endothelium interact with integrins on the leukocytes resulting in adhesion, 4. diapedesis and chemotaxis: diapedesis is the transmigration of the leukocyte across the endothelium of the capillary and towards a chemotactic product and 5. phagocytosis: engulfing the offending substance/cell.

Holstein-Lewis fracture is a fracture of the distal third of the humerus resulting in entrapment of the radial nerve. The radial nerve is one of the major peripheral nerves of the upper limb. It innervates all the muscles in the extensor compartments of the arm.

Conservative treatment for this fracture includes reduction and use of a functional brace. However, vascular injury may require open surgery.

Answer: Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen.

Type II – Perinatal lethal
Some providers who treat large numbers of patients with osteogenesis imperfecta suggest that the diagnosis of Type II OI be made in retrospect for patients who do not survive the perinatal period, and that even patients with very severe forms of OI who nonetheless are long term survivors be classified as Type III. Blue sclera may be present. Patients may have a small nose, micrognathia, or both. All patients have in utero fractures, which may involve the skull, long bones, and/or vertebrae. The ribs are beaded, and the long bones are severely deformed.
Causes of death include extreme fragility of the ribs, pulmonary hypoplasia, and malformations or haemorrhages of the CNS.

Type III – Severe, progressively deforming

Patients may have joint hyperlaxity, muscle weakness, chronic unremitting bone pain, and skull deformities (e.g., posterior flattening) due to bone fragility during infancy.

Deformities of upper limbs may compromise function and mobility. The presence of dentinogenesis imperfecta is independent of the severity of the osteogenesis imperfecta. The sclera have variable hues. In utero fractures are common. Limb shortening and progressive deformities can occur. Patients have a triangular face with frontal and temporal bossing. Malocclusion is common. Basilar invagination is an uncommon but potentially fatal occurrence in osteogenesis imperfecta.
Vertigo is common in patients with severe osteogenesis imperfecta. Hypercalciuria may be present in about 36% of patients with osteogenesis imperfecta, and adults may be at higher risk of renal calculi. Respiratory complications secondary to kyphoscoliosis are common in individuals with severe osteogenesis imperfecta.
Constipation and hernias are also common in people with osteogenesis imperfecta.

Obtain a radiographic skeletal survey after birth.

In mild (type I) osteogenesis imperfecta, images may reveal thinning of the long bones with thin cortices. Several wormian bones may be present. No deformity of long bones is observed.

In extremely severe (type II) osteogenesis imperfecta, the survey may reveal beaded ribs, broad bones, and numerous fractures with deformities of the long bones. Platyspondylia may also be revealed.

In moderate and severe (types III and IV) osteogenesis imperfecta, imaging may reveal cystic metaphysis, or a popcorn appearance of the growth cartilage. Normal or broad bones are revealed early, with thin bones revealed later. Fractures may cause deformities of the long bones. Old rib fractures may be present. Vertebral fractures are common.

Answer: Obtain intravenous access, administer fluids and antibiotics.

Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction (blockage). Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. The obstruction can cause swelling and inflammation that can lead to intestinal injury. The patient with intussusception is usually an infant, often one who has had an upper respiratory infection, who presents with the following symptoms:

Vomiting: Initially, vomiting is nonbilious and reflexive, but when the intestinal obstruction occurs, vomiting becomes bilious

Abdominal pain: Pain in intussusception is colicky, severe, and intermittent

Passage of blood and mucus: Parents report the passage of stools, by affected children, that look like currant jelly; this is a mixture of mucus, sloughed mucosa, and shed blood; diarrhoea can also be an early sign of intussusception

Lethargy: This can be the sole presenting symptom of intussusception, which makes the condition’s diagnosis challenging

Palpable abdominal mass

Diagnosis:
Ultrasonography: Hallmarks of ultrasonography include the target and pseudo kidney signs.

For all children, start intravenous fluid resuscitation and nasogastric decompression as soon as possible.

Risk factors for hepatocellular carcinoma include hepatitis B and C, aflatoxin, anabolic steroids, alcohol cirrhosis and primary liver disease.

Heparin is a natural highly-sulphated glycosaminoglycan that has anticoagulant functions. It is produced by the body basophils and mast cells.

Fine-needle aspiration (FNA) cytology of axillary lymph nodes is a simple, minimally invasive technique that can be used to improve preoperative determination of the status of the axillary lymph nodes in patients with breast cancer, thereby serving as a tool with which to triage patients for sentinel versus full lymph node dissection procedures. FNA of axillary lymph nodes is a sensitive and very specific method with which to detect metastasis in breast cancer patients. Because of its excellent positive predictive value, full axillary lymph node dissection can be planned safely instead of a sentinel lymph node dissection when a preoperative positive FNA result is rendered.

An autoimmune disease, primary biliary cirrhosis results in destruction of intrahepatic bile ducts. This leads to cholestasis, cirrhosis and eventually, hepatic failure. Symptoms includes fatigue, pruritus and steatorrhea. Increased IgM levels, along with antimitochondrial antibodies are seen in the serum. Liver biopsy is diagnostic, and also aids in staging of disease.

Breast cancer frequently metastasizes to the skeleton, interrupting the normal bone remodelling process and causing bone degradation. Breast cancer is the commonest cause of lytic bone metastasis in women of this age, especially from amongst those options given.

Osteolytic lesions are the end result of osteoclast activity; however, osteoclast differentiation and activation are mediated by osteoblast production of RANKL (receptor activator for NFκB ligand) and several osteoclastogenic cytokines. Osteoblasts themselves are negatively affected by cancer cells as evidenced by an increase in apoptosis and a decrease in proteins required for new bone formation. Thus, bone loss is due to both increased activation of osteoclasts and suppression of osteoblasts. The clinical outcomes of bone pain, pathologic fractures, nerve compression syndrome, and metabolic disturbances leading to hypercalcemia and acid/base imbalance severely reduce the quality of life.

Lower motor neurons (LMNs) connect the brainstem and spinal cord to muscle fibres. Damage to lower motor neurons is indicated by abnormal electromyographic potentials, fasciculations, paralysis, weakening and wasting of skeletal muscles.

Capillaries are the smallest of the body’s blood vessels, measuring 5–10 μm and they help to enable the exchange of water, oxygen, carbon dioxide, and many other nutrients and waste substances between the blood and the tissues surrounding them. The walls of capillaries are composed of only a single layer of cells, the endothelium. Ion channels are pore-forming proteins that help to establish and control the small voltage gradient that exists across the plasma membrane of all living cells by allowing the flow of ions down their electrochemical gradient. An ion channel is an integral membrane protein or more typically an assembly of several proteins. The archetypal channel pore is just one or two atoms wide at its narrowest point. It conducts a specific ion such as sodium or potassium and conveys them through the membrane in single file.