Treatment Options for Self-Harm: Psychological Interventions and Care Plans

Self-harm is a serious issue that requires appropriate treatment. While drug treatment is not recommended, psychological interventions such as cognitive behavioural therapy (CBT), psychodynamic therapy, and problem-solving therapy can be effective. It is important to offer sessions of a psychological intervention that are specifically structured for people who self-harm, while also tailoring the treatment plan to each individual. Family therapy is not recommended for this particular issue. Developing a care plan with agreed-upon aims for longer-term treatment is also crucial. Overall, a combination of psychological interventions and care plans can help reduce self-harm.

The presence of multiple bruises at different stages of healing in an infant who has been brought a few months after the injuries occurred should raise suspicion of non-accidental injury. This is because it is unlikely for a child to have so many bruises from clumsiness alone. A delayed presentation may also suggest non-accidental injury. Therefore, the correct course of action is to immediately contact the safeguarding lead. While coagulation screen and coagulopathy testing may be performed later, they are not the first priority. Similarly, oral prednisolone is not the first-line treatment for children with immune thrombocytopenia (ITP) and is not relevant in this case. The priority is to assess the infant for non-accidental injury.

Recognizing Child Abuse: Signs and Symptoms

Child abuse is a serious issue that can have long-lasting effects on a child’s physical and emotional well-being. It is important to be able to recognize the signs and symptoms of child abuse in order to intervene and protect the child. One possible indicator of abuse is when a child discloses abuse themselves. However, there are other factors that may point towards abuse, such as an inconsistent story with injuries, repeated visits to A&E departments, delayed presentation, and a frightened, withdrawn appearance known as frozen watchfulness.

Physical presentations of child abuse can also be a sign of abuse. These may include bruising, fractures (especially metaphyseal, posterior rib fractures, or multiple fractures at different stages of healing), torn frenulum (such as from forcing a bottle into a child’s mouth), burns or scalds, failure to thrive, and sexually transmitted infections like Chlamydia, gonorrhoeae, and Trichomonas. It is important to be aware of these signs and symptoms and to report any concerns to the appropriate authorities to ensure the safety and well-being of the child.

Kawasaki Disease: Diagnosis, Treatment, and Monitoring

Kawasaki disease is a febrile vasculitis affecting small to medium-sized arteries in children under the age of 5 years. Diagnosis is based on clinical presentation, including fever lasting for >5 days and at least four or five of the following: bilateral conjunctivitis, changes in the lips and oral mucosal cavities, lymphadenopathy, polymorphous rash, and changes in the extremities. Atypical cases may present with fewer symptoms. An echocardiogram is essential on admission to assess cardiac function and for the presence of aneurysms. Treatment involves inpatient care, intravenous immunoglobulins (IVIG), antipyretics, and monitoring of cardiovascular function. Corticosteroids may be used as an adjunct to IVIG. Aspirin is indicated for Kawasaki disease. Serial echocardiography is advised to monitor for any changes/worsening. If recognised early and treated appropriately, the prognosis is very good. If not, it carries a high morbidity as it is associated with the formation of arterial aneurysms and development of congestive heart disease. Other tests, such as ESR, throat swab, ASOT, and chest X-ray, may be performed but are not critical for the care and management of the patient.

Understanding Kawasaki Disease: Diagnosis, Treatment, and Monitoring

This question pertains to gastrointestinal disorders in children, specifically focusing on the symptoms of vomiting and diarrhea. While there can be various reasons for these symptoms, the child in this scenario displays indications of Intussusception. One of the classic signs is the child crying intermittently and pulling their legs towards their chest. Additionally, the presence of a small mass in the right upper quadrant and a target sign on ultrasound further support this diagnosis, along with the vomiting, diarrhea, and pain.

The vomit and stool do not show any significant abnormalities, and the absence of a fever suggests that it is not an infectious episode. Pyloric stenosis is unlikely to present in this manner. However, before an abdominal ultrasound x-ray is conducted, it is not possible to rule out a small bowel obstruction. Nevertheless, there are no indications of obstruction on the x-ray.

Understanding Intussusception

Intussusception is a medical condition that occurs when one part of the bowel folds into the lumen of the adjacent bowel, usually around the ileo-caecal region. This condition is most common in infants between 6-18 months old, with boys being affected twice as often as girls. The symptoms of intussusception include severe, crampy abdominal pain that comes and goes, inconsolable crying, vomiting, and blood stained stool, which is a late sign. During a paroxysm, the infant will typically draw their knees up and turn pale, and a sausage-shaped mass may be felt in the right upper quadrant.

To diagnose intussusception, ultrasound is now the preferred method of investigation, as it can show a target-like mass. Treatment for intussusception involves reducing the bowel by air insufflation under radiological control, which is now widely used as a first-line treatment instead of the traditional barium enema. If this method fails, or the child shows signs of peritonitis, surgery is performed.

In summary, intussusception is a medical condition that affects infants and involves the folding of one part of the bowel into the lumen of the adjacent bowel. It is characterized by severe abdominal pain, vomiting, and blood stained stool, among other symptoms. Ultrasound is the preferred method of diagnosis, and treatment involves reducing the bowel by air insufflation or surgery if necessary.

In most areas of the UK, pure tone audiometry is conducted when children start school, typically at around 3-4 years of age. This test involves the child wearing headphones and indicating when they hear a beep of varying pitch in each ear. However, it can only be administered to children who are able to follow the test instructions.

For infants who do not pass the otoacoustic emission test, auditory brainstem response testing is performed while they are asleep. This involves placing electrodes on the scalp and headphones over the ears to record the brain’s response to sound.

Distraction testing is a subjective test used to assess the hearing ability of infants between 6-24 months. The test involves playing sounds of varying loudness and tone to the left and right of the infant to see if they can locate the source of the sound.

Newborns are typically screened using otoacoustic emission testing, which does not require any cooperation from the infant. The test assesses the cochlea by playing a sound and detecting the echo it produces.

Hearing Tests for Children

Hearing tests are important for children to ensure that they are developing normally. There are several tests that may be performed on children of different ages. For newborns, an otoacoustic emission test is typically done as part of the Newborn Hearing Screening Programme. This test involves playing a computer-generated click through a small earpiece and checking for the presence of a soft echo, which indicates a healthy cochlea. If the results of this test are abnormal, an Auditory Brainstem Response test may be done.

For infants between 6-9 months, a Distraction test may be performed by a health visitor with the help of two trained staff members. For children between 18 months to 2.5 years, a Recognition of familiar objects test may be used, which involves using familiar objects like a teddy or cup and asking the child simple questions like where is the teddy? For children over 2.5 years, Performance testing and Speech discrimination tests may be used, such as the Kendall Toy test or McCormick Toy Test. Pure tone audiometry is typically done at school entry in most areas of the UK for children over 3 years old.

In addition to these tests, there is also a questionnaire for parents in the Personal Child Health Records called Can your baby hear you? It is important for parents to be aware of these tests and to have their child’s hearing checked regularly to ensure proper development.

The primary diagnostic tool for pyloric stenosis is an abdominal ultrasound scan. This condition is characterized by projectile vomiting and constant hunger in infants, and ultrasound can reveal a thickened pyloric muscle, often with a target sign. Although it is more common in boys aged 3-6 weeks, it can also occur in older infants of either gender. The treatment is typically Ramstedt’s pyloromyotomy, which can be performed laparoscopically. Abdominal X-rays are not as useful for diagnosis, as they do not provide clear visualization of the pylorus. While abdominal examination may reveal an olive-shaped mass in the upper abdomen, ultrasound is still the preferred diagnostic method. Arterial blood gas tests are important for managing the condition, as vomiting can lead to metabolic alkalosis and electrolyte imbalances.

Understanding Pyloric Stenosis

Pyloric stenosis is a condition that usually occurs in infants between the second and fourth weeks of life. However, in rare cases, it may present later, up to four months. This condition is caused by the thickening of the circular muscles of the pylorus. Pyloric stenosis is more common in males, with an incidence of 4 per 1,000 live births. It is also more likely to affect first-borns and infants with a positive family history.

The most common symptom of pyloric stenosis is projectile vomiting, which usually occurs about 30 minutes after a feed. Other symptoms may include constipation, dehydration, and a palpable mass in the upper abdomen. Prolonged vomiting can lead to hypochloraemic, hypokalaemic alkalosis, which can be life-threatening.

Diagnosis of pyloric stenosis is typically made using ultrasound. Management of this condition involves a surgical procedure called Ramstedt pyloromyotomy. This procedure involves making a small incision in the pylorus to relieve the obstruction and allow for normal passage of food. With prompt diagnosis and treatment, infants with pyloric stenosis can make a full recovery.

Transient Synovitis in Childhood: the Causes and Diagnosis

Transient synovitis is a prevalent cause of hip pain in children, but it is crucial to rule out other more severe causes before diagnosing it. The exact cause of this condition is still unknown, but it is believed to be associated with viral infections, allergic reactions, or trauma.

Transient synovitis is a self-limiting condition that typically resolves within a few days to weeks. However, it is essential to differentiate it from other conditions that may require urgent medical attention, such as septic arthritis or Legg-Calve-Perthes disease. Therefore, a thorough medical history, physical examination, and imaging studies are necessary to make an accurate diagnosis.

In conclusion, transient synovitis is a common cause of hip pain in childhood, but it is crucial to exclude other more serious conditions before diagnosing it. Parents should seek medical attention if their child experiences hip pain, limping, or difficulty walking to ensure prompt and appropriate treatment.

Tetralogy of Fallot is characterized by cyanosis or collapse within the first month of life, as well as hypercyanotic spells and an ejection systolic murmur at the left sternal edge. The presence of poor feeding, agitation, and low birth weight also suggest this diagnosis. It’s important to note that the murmur is caused by pulmonary stenosis, not the ventricular septal defect, which is too large to produce a murmur. An atrial septal defect and patent ductus arteriosus are unlikely as they are acyanotic shunts that produce different symptoms and sounds on auscultation. Transposition of the great arteries is also not a possibility as it presents with different symptoms immediately after delivery.

Understanding Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a congenital heart disease that results from the anterior malalignment of the aorticopulmonary septum. It is the most common cause of cyanotic congenital heart disease, and it typically presents at around 1-2 months, although it may not be detected until the baby is 6 months old. The condition is characterized by four features, including ventricular septal defect (VSD), right ventricular hypertrophy, right ventricular outflow tract obstruction, and overriding aorta. The severity of the right ventricular outflow tract obstruction determines the degree of cyanosis and clinical severity.

Other features of TOF include cyanosis, which may cause episodic hypercyanotic ‘tet’ spells due to near occlusion of the right ventricular outflow tract. These spells are characterized by tachypnea and severe cyanosis that may occasionally result in loss of consciousness. They typically occur when an infant is upset, in pain, or has a fever, and they cause a right-to-left shunt. Additionally, TOF may cause an ejection systolic murmur due to pulmonary stenosis, and a right-sided aortic arch is seen in 25% of patients. Chest x-ray shows a ‘boot-shaped’ heart, while ECG shows right ventricular hypertrophy.

The management of TOF often involves surgical repair, which is usually undertaken in two parts. Cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm. However, it is important to note that at birth, transposition of the great arteries is the more common lesion as patients with TOF generally present at around 1-2 months. Understanding the features and management of TOF is crucial for healthcare professionals to provide appropriate care and treatment for affected infants.

When a newborn baby’s hearing test at birth shows an abnormal result, they are recommended to undergo an auditory brainstem response test as a newborn or infant. Prior to being discharged from the hospital, all newborns should have an acoustic emission test, which involves placing a soft earpiece in the baby’s ear and playing quiet clicking sounds to detect inner ear responses. If this test yields abnormal results, the auditory brainstem response test is conducted using three sensors placed on the baby’s head and neck, along with soft headphones to play sounds and analyze the brain and hearing nerve responses. At 6-9 months of age, a distraction test is performed, and most areas in the UK conduct pure tone audiometry at school entry.

Hearing Tests for Children

Hearing tests are important for children to ensure that they are developing normally. There are several tests that may be performed on children of different ages. For newborns, an otoacoustic emission test is typically done as part of the Newborn Hearing Screening Programme. This test involves playing a computer-generated click through a small earpiece and checking for the presence of a soft echo, which indicates a healthy cochlea. If the results of this test are abnormal, an Auditory Brainstem Response test may be done.

For infants between 6-9 months, a Distraction test may be performed by a health visitor with the help of two trained staff members. For children between 18 months to 2.5 years, a Recognition of familiar objects test may be used, which involves using familiar objects like a teddy or cup and asking the child simple questions like where is the teddy? For children over 2.5 years, Performance testing and Speech discrimination tests may be used, such as the Kendall Toy test or McCormick Toy Test. Pure tone audiometry is typically done at school entry in most areas of the UK for children over 3 years old.

In addition to these tests, there is also a questionnaire for parents in the Personal Child Health Records called Can your baby hear you? It is important for parents to be aware of these tests and to have their child’s hearing checked regularly to ensure proper development.

Immediate admission would be necessary for a heart rate of 200bpm. A heart rate of 160 bpm would be worrisome and hospital evaluation should be contemplated, but the urgency would vary based on the patient’s clinical state.

Bronchiolitis is a condition where the bronchioles become inflamed, and it is most commonly caused by respiratory syncytial virus (RSV). This virus is responsible for 75-80% of cases, with other causes including mycoplasma and adenoviruses. Bronchiolitis is most prevalent in infants under one year old, with 90% of cases occurring in those aged 1-9 months. The condition is more serious in premature babies, those with congenital heart disease or cystic fibrosis. Symptoms include coryzal symptoms, dry cough, increasing breathlessness, and wheezing. Hospital admission is often necessary due to feeding difficulties associated with increasing dyspnoea.

Immediate referral is recommended if the child has apnoea, looks seriously unwell, has severe respiratory distress, central cyanosis, or persistent oxygen saturation of less than 92% when breathing air. Clinicians should consider referral if the child has a respiratory rate of over 60 breaths/minute, difficulty with breastfeeding or inadequate oral fluid intake, or clinical dehydration. Immunofluorescence of nasopharyngeal secretions may show RSV, and management is largely supportive. Humidified oxygen is given via a head box if oxygen saturations are persistently low, and nasogastric feeding may be necessary if children cannot take enough fluid/feed by mouth. Suction may also be used for excessive upper airway secretions. NICE released guidelines on bronchiolitis in 2015 for more information.

Mitochondrial Diseases: Inheritance and Histology

Mitochondrial diseases are caused by mutations in the small amount of double-stranded DNA present in the mitochondria. This DNA encodes protein components of the respiratory chain and some special types of RNA. Mitochondrial inheritance has unique characteristics, including inheritance only via the maternal line and none of the children of an affected male inheriting the disease. However, all of the children of an affected female will inherit the disease. These diseases generally encode rare neurological diseases and have a poor genotype-phenotype correlation due to heteroplasmy, where different mitochondrial populations exist within a tissue or cell.

Histologically, muscle biopsy shows red, ragged fibers due to an increased number of mitochondria. Some examples of mitochondrial diseases include Leber’s optic atrophy, MELAS syndrome (mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes), MERRF syndrome (myoclonus epilepsy with ragged-red fibers), Kearns-Sayre syndrome (onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa, and ptosis may be seen), and sensorineural hearing loss.

Croup is a viral illness that affects young children, causing a sudden-onset barking cough and upper airway inflammation. Mild cases can be treated with a single dose of oral dexamethasone, while moderate to severe cases require admission and nebulised adrenaline. This child has mild croup and should be given a single dose of oral dexamethasone before being discharged home with clear instructions on when to seek further medical attention. If the child develops any signs of respiratory distress, they should be taken to the Emergency Department immediately.

Understanding Different Karyotypes and Associated Conditions

Karyotypes are an important tool in diagnosing genetic disorders. Here are some common karyotypes and the associated conditions:

Turner Syndrome (45,XO): This disorder affects females and is caused by the absence of one or part of an X chromosome. Symptoms include short stature, heart defects, and premature ovarian failure.

Klinefelter’s Syndrome (47,XXY): This karyotype is associated with males who have an extra X chromosome. Symptoms include delayed puberty, small testes, and learning disabilities.

Trisomy 21 (47,XX+21): This karyotype is associated with Down syndrome, which causes intellectual disability and physical characteristics such as slanted palpebral fissure and a wide space between the big and second toe.

47,XYY: This karyotype is associated with males who have an extra Y chromosome. Symptoms include tall stature and an increased risk of learning difficulties and behavioral problems.

Normal Karyotype: A normal karyotype for a woman is 46,XX. If a different karyotype is present, it may indicate a genetic disorder.

For neonatal hypoglycaemia, the correct course of action is to encourage early feeding and monitor blood glucose. Asymptomatic hypoglycaemia is common in newborns and not a cause for concern. Therefore, encouraging early feeding, either through bottle or breast, and monitoring blood glucose until it normalizes is sufficient. Admitting the baby to the neonatal unit for further monitoring is unnecessary at this point, as observations are normal and the baby is doing well. Monitoring blood glucose alone is not enough, as feeding is necessary for the glucose levels to normalize. No action is not an option, as it is important to take steps to resolve the hypoglycaemic episode, even if it is mild and asymptomatic.

Neonatal Hypoglycaemia: Causes, Symptoms, and Management

Neonatal hypoglycaemia is a common condition in newborn babies, especially in the first 24 hours of life. While there is no agreed definition, a blood glucose level of less than 2.6 mmol/L is often used as a guideline. Transient hypoglycaemia is normal and usually resolves on its own, but persistent or severe hypoglycaemia may be caused by various factors such as preterm birth, maternal diabetes mellitus, IUGR, hypothermia, neonatal sepsis, inborn errors of metabolism, nesidioblastosis, or Beckwith-Wiedemann syndrome.

Symptoms of neonatal hypoglycaemia can be autonomic, such as jitteriness, irritability, tachypnoea, and pallor, or neuroglycopenic, such as poor feeding/sucking, weak cry, drowsiness, hypotonia, and seizures. Other features may include apnoea and hypothermia. Management of neonatal hypoglycaemia depends on the severity of the condition and whether the newborn is symptomatic or not. Asymptomatic babies can be encouraged to feed normally and have their blood glucose monitored, while symptomatic or severely hypoglycaemic babies may need to be admitted to the neonatal unit and receive intravenous infusion of 10% dextrose.

The Rotavirus Vaccine: A Vital Tool in Preventing Childhood Illness and Mortality

Rotavirus is a significant public health concern, causing high rates of morbidity and hospitalization in developed countries and childhood mortality in developing nations. To combat this, a vaccine was introduced into the NHS immunization program in 2013. This vaccine is an oral, live attenuated vaccine that requires two doses, the first at two months and the second at three months. It is important to note that the first dose should not be given after 14 weeks and six days, and the second dose cannot be given after 23 weeks and six days due to the theoretical risk of intussusception.

The rotavirus vaccine is highly effective, with an estimated efficacy rate of 85-90%. It is predicted to reduce hospitalization rates by 70% and provides long-term protection against rotavirus. This vaccine is a vital tool in preventing childhood illness and mortality, particularly in developing countries where access to healthcare may be limited. By ensuring that children receive the rotavirus vaccine, we can help to protect them from this dangerous and potentially deadly virus.

Bronchiolitis is a condition where the bronchioles become inflamed, and it is most commonly caused by respiratory syncytial virus (RSV). This virus is responsible for 75-80% of cases, with other causes including mycoplasma and adenoviruses. Bronchiolitis is most prevalent in infants under one year old, with 90% of cases occurring in those aged 1-9 months. The condition is more serious in premature babies, those with congenital heart disease or cystic fibrosis. Symptoms include coryzal symptoms, dry cough, increasing breathlessness, and wheezing. Hospital admission is often necessary due to feeding difficulties associated with increasing dyspnoea.

Immediate referral is recommended if the child has apnoea, looks seriously unwell, has severe respiratory distress, central cyanosis, or persistent oxygen saturation of less than 92% when breathing air. Clinicians should consider referral if the child has a respiratory rate of over 60 breaths/minute, difficulty with breastfeeding or inadequate oral fluid intake, or clinical dehydration. Immunofluorescence of nasopharyngeal secretions may show RSV, and management is largely supportive. Humidified oxygen is given via a head box if oxygen saturations are persistently low, and nasogastric feeding may be necessary if children cannot take enough fluid/feed by mouth. Suction may also be used for excessive upper airway secretions. NICE released guidelines on bronchiolitis in 2015 for more information.

Febrile convulsions are a common occurrence in young children, with up to 5% of children experiencing them. However, only a small percentage of these children will develop epilepsy. Risk factors for febrile convulsions include a family history of the condition and a background of neurodevelopmental disorder. The use of regular antipyretics has not been proven to decrease the likelihood of febrile convulsions.

Febrile convulsions are seizures caused by fever in children aged 6 months to 5 years. They typically last less than 5 minutes and are most commonly tonic-clonic. There are three types: simple, complex, and febrile status epilepticus. Children who have had a first seizure or any features of a complex seizure should be admitted to pediatrics. Regular antipyretics do not reduce the chance of a febrile seizure occurring. The overall risk of further febrile convulsion is 1 in 3, with risk factors including age of onset, fever duration, family history, and link to epilepsy. Children without risk factors have a 2.5% risk of developing epilepsy, while those with all three features have a much higher risk.

Management of Infantile Pyloric Stenosis: Correcting Metabolic Derangements

Infantile pyloric stenosis is a condition that affects 3-4/1000 live births, with a higher incidence in males and first-born babies. The condition is characterized by an increase in the length and diameter of the pylorus, with hypertrophy of the circular muscle layer and autonomic nerves. The classical electrolyte abnormality associated with infantile pyloric stenosis is hypokalaemic hypochloraemic alkalosis.

Before undertaking surgery, it is crucial to correct the metabolic abnormalities in consultation with an experienced paediatrician and anaesthetist. Jaundice may also occur in 2-3% of infants with pyloric stenosis due to a decrease in hepatic glucuronosyltransferase activity associated with starvation.

The tumour is typically diagnosed clinically as a palpable tumour on test feed alongside a history of projectile vomiting and hungry feeding without bile in the vomitus. Upper GI endoscopy may not be necessary if the diagnosis is clear.

Feeding jejunostomy is not appropriate initial management for infantile pyloric stenosis. The definitive surgical treatment is Ramstedt’s pyloromyotomy, which involves excluding the umbilicus from the operative field due to the risk of staphylococcus aureus infection. Total parenteral nutrition may be ill-advised given the significant electrolyte derangements associated with the condition.

In summary, correcting metabolic derangements is crucial before undertaking surgery for infantile pyloric stenosis. The definitive treatment is Ramstedt’s pyloromyotomy, and other management options should be carefully considered in consultation with experienced healthcare professionals.

Biliary atresia is diagnosed when a newborn presents with prolonged jaundice, hepatomegaly, splenomegaly, abnormal growth, and cardiac murmurs. Surgery is the preferred treatment, specifically a hepatoportoenterostomy (HPE), also known as Kasai portoenterostomy. This procedure removes the blocked bile ducts and replaces them with a segment of the small intestine, restoring bile flow from the liver to the proximal small bowel. Ursodeoxycholic acid may be given as an adjuvant after surgery to facilitate bile flow and protect the liver. However, it should not be given if the total bilirubin is >256.6 micromol/L (>15 mg/dL). Frequent monitoring is not sufficient, urgent action is required. Liver transplant is not the first-line treatment, but may be considered if HPE is unsuccessful or if there are signs of end-stage liver disease, progressive cholestasis, hepatocellular decompensation, or severe portal hypertension.

Understanding Biliary Atresia in Neonatal Children

Biliary atresia is a condition that affects the extrahepatic biliary system in neonatal children, resulting in an obstruction in the flow of bile. This condition is more common in females than males and occurs in 1 in every 10,000-15,000 live births. There are three types of biliary atresia, with type 3 being the most common. Patients typically present with jaundice, dark urine, pale stools, and abnormal growth.

To diagnose biliary atresia, doctors may perform various tests, including serum bilirubin, liver function tests, serum alpha 1-antitrypsin, sweat chloride test, and ultrasound of the biliary tree and liver. Surgical intervention is the only definitive treatment for biliary atresia, and medical intervention includes antibiotic coverage and bile acid enhancers following surgery.

Complications of biliary atresia include unsuccessful anastomosis formation, progressive liver disease, cirrhosis, and eventual hepatocellular carcinoma. However, the prognosis is good if surgery is successful. In cases where surgery fails, liver transplantation may be required in the first two years of life. Overall, understanding biliary atresia is crucial for early diagnosis and effective management in neonatal children.

Men who carry BRCA mutations are at a higher risk of developing prostate cancer, particularly those with the BRCA2 gene which is associated with a more aggressive form of the disease. BRCA1 and BRCA2 are tumor suppressor genes that are inherited in an autosomal dominant manner with incomplete penetrance. On the other hand, APC mutation is not a major contributor to the development of clinical prostate cancer, as it is primarily responsible for colorectal tumors, often accompanied by ras and p53 mutations. BRAF mutation is an incorrect answer, as it is rare in both early and late-stage prostate cancer, but is found in approximately 50% of melanomas.

Understanding Tumour Suppressor Genes

Tumour suppressor genes are responsible for controlling the cell cycle and preventing the development of cancer. When these genes lose their function, the risk of cancer increases. However, it is important to note that both alleles of the gene must be mutated before cancer can occur.

There are several examples of tumour suppressor genes, including p53, APC, BRCA1 & BRCA2, NF1, Rb, WT1, and MTS-1 (p16). These genes are associated with various types of cancer, such as colorectal cancer, breast and ovarian cancer, neurofibromatosis, retinoblastoma, Wilm’s tumour, and melanoma.

It is crucial to understand the role of tumour suppressor genes in preventing cancer and the consequences of their loss of function. In contrast to oncogenes, which result in an increased risk of cancer due to a gain of function, tumour suppressor genes must be both mutated before cancer can occur. By studying these genes and their functions, researchers can develop new strategies for cancer prevention and treatment.