Specialties

Psychotic Disorders

Psychosis is the misrepresentation of thoughts and perceptions that originate from a patient’s own mind which are experienced as reality. It is a symptom, not a diagnosis in itself and affects about 3% of the population.   Causes: With most psychiatric conditions, the aetiology of psychosis is seen with a biopsychosocial model: Biological: Genetics –> Twin studies have shown schizophrenia has 50% concordance rate in MZ  twins Dopamine–> Antipsychotics block D2 receptors whereas L-Dopa induces psychosis Neurodevelopmental –> Higher in people with low birth weight, developmental delay etc.   Psychological: Prodrome –> Often preceded by patients exhibiting anxiety, depression and ideas of reference –

Stress Reactions

  Acute stress reaction This is an acute reaction which occurs rapidly (minutes to hours) after a sudden and stressful event. – This can include sexual assault, an injury, a near-death experience etc. – This leads to several symptoms in response which usually arise very quickly and terminate within 3 days   Symptoms: – Initial state of being dazed and confused – Purposeless overactivity and withdrawal – Intense brief anxiety – Autonomic arousal –> sweating, dry mouth, vomiting   Management – Help patient to re-orientate with trauma-focussed CBT Prognosis – Most cases resolve rapidly within 3 days. If symptoms persist > 1

Affective Disorders

Affective (mood disorders) are characterised by emotional disturbances resulting in functional impairment.   Causes: The aetiology of affective disorders can be seen using a biopsychosocial model:  Biological: 5-HT–> Low levels of endogenous 5-HT and Na are thought to decrease mood Cortisol –> Overactivation of the HPA axis increases both risk and persistence of low  mood   Psychological: Beck’s triad –> Negative views about the self, the world and the future seen in depression Attributional style –> Higher incidence in people who blame themselves for life events   Social: Stress –> Linked to negative life events, adversity and childhood stress.   Depression This is a mental

Medically Unexplained Symptoms

  Somatisation Disorder (SYMPTOMS) This is a disorder where patients believe that have physical symptoms present for at least 2 years, despite no physical or organic explanation – The most common symptoms mentioned usually involve the GI tract (abdominal pain) or the skin – Patients don’t accept negative test results and instead feel great distress and worry over their symptoms – It is more common in young women and can lead to multiple operations/investigations despite absence of disease   Hypochondrial Disorder (DISEASE) This is a disorder where patients believe they have a serious underlying disease e.g. cancer, HIV, AIDS –

Affective Disorders

Affective (mood disorders) are characterised by emotional disturbances resulting in functional impairment.   Causes: The aetiology of affective disorders can be seen using a biopsychosocial model:  Biological: 5-HT–> Low levels of endogenous 5-HT and Na are thought to decrease mood Cortisol –> Overactivation of the HPA axis increases both risk and persistence of low  mood   Psychological: Beck’s triad –> Negative views about the self, the world and the future seen in depression Attributional style –> Higher incidence in people who blame themselves for life events   Social: Stress –> Linked to negative life events, adversity and childhood stress.   Depression This is a mental

Delirium

This is an acute confusional state which is characterised by rapid onset of a global but fluctuating dysfunction of the CNS due to a variety of insults on the brain. – It is more commonly seen in people aged >65 and those with diffuse brain disease (dementia) – However, it can be experienced by anyone in hospital and is an important thing to keep watch out for   Causes – The main causes can be remembered using the acronym PINCH-ME: P – Pain In – Infection (often a UTI in elderly) C – Constipation H – Hydration M – Medication (drugs) E – Electrolytes (e.g. hyponatraemia) E – Environment

Eating Disorders

  Eating disorders refer to a group of conditions which are characterised by a disorganised pattern of food consumption which causes physical and emotional distress. – They are more common in females than males (3:1) with an onset around age 15-30. – The two most common are anorexia nervosa and bulimia nervosa, which share similar features.   Causes: With most psychiatric conditions, the aetiology can be considered using a biopsychosocial model. Biological: Genetics –> Twin studies have shown that eating disorders share a large genetic component 5-HT –> Altered brain serotonin contributes to dysregulation of appetite, mood and impulsivity   Psychological: Personality –> Higher

Personality Disorders

Personality is “the range of characteristic behavioural responses that a person deploys in order to negotiate the challenges produced by the outside world and their internal feelings.” – It is composed of 4 main components: cognition, impulse control, social communication and affect/emotions – As these components are continuous, psychiatrists assign cut-offs indicating when they become abnormal.   A personality disorder is where one or more of these components of personality has reached an abnormal level: i) The trait has to be pathological, pervasive and persistent (3P’s) ii) It must lead to stereotyped responses which can be traced to childhood iii)

Affective Disorders

  Affective (mood disorders) are characterised by emotional disturbances resulting in functional impairment.   Causes: The aetiology of affective disorders can be seen using a biopsychosocial model:  Biological: 5-HT–> Low levels of endogenous 5-HT and Na are thought to decrease mood Cortisol –> Overactivation of the HPA axis increases both risk and persistence of low  mood   Psychological: Beck’s triad –> Negative views about the self, the world and the future seen in depression Attributional style –> Higher incidence in people who blame themselves for life events   Social: Stress –> Linked to negative life events, adversity and childhood stress.   Depression This is a

Affective Disorders

Affective (mood disorders) are characterised by emotional disturbances resulting in functional impairment.   Causes: The aetiology of affective disorders can be seen using a biopsychosocial model:  Biological: 5-HT–> Low levels of endogenous 5-HT and Na are thought to decrease mood Cortisol –> Overactivation of the HPA axis increases both risk and persistence of low  mood   Psychological: Beck’s triad –> Negative views about the self, the world and the future seen in depression Attributional style –> Higher incidence in people who blame themselves for life events   Social: Stress –> Linked to negative life events, adversity and childhood stress.   Depression This is a mental

Eating Disorders

Eating disorders refer to a group of conditions which are characterised by a disorganised pattern of food consumption which causes physical and emotional distress. – They are more common in females than males (3:1) with an onset around age 15-30. – The two most common are anorexia nervosa and bulimia nervosa, which share similar features.   Causes: With most psychiatric conditions, the aetiology can be considered using a biopsychosocial model. Biological: Genetics –> Twin studies have shown that eating disorders share a large genetic component 5-HT –> Altered brain serotonin contributes to dysregulation of appetite, mood and impulsivity   Psychological: Personality –> Higher association

Substance Abuse

Alcohol Alcohol abuse is defined as the regular or binge consumption of alcohol which can lead to physical, neuropsychiatric or social damage. – 1 unit (10mL) of alcohol is about equivalent to a small glass of wine, or a single peg of spirits. – Units = Volume (L) * ABV (%) – e.g. a 750ml bottle of wine, strength 12% has 750/1000 *12 = 9 units – Both men and women should drink no more than 14 units a week. If you do, it is best to spread this evenly over 3 days or more. There are several problems of

Childhood Conditions

ADHD This is a disorder which is characterised by inattention, hyperactivity and impulsivity – It is much more common in boys than girls and diagnosed in the primary school years – In order to distinguish this condition from simply bad behaviour, there are 3 key things that must be present in order to satisfy the diagnostic criteria: –> Persistent – This means that the disruptive behaviour must be constant – If behaviour does fluctuate, then this could simply be an acute reaction to a change in the environment of the child.   –> Pervasive – This means that the disruptive behaviour must be seen

Childhood Conditions

  ADHD This is a disorder which is characterised by inattention, hyperactivity and impulsivity – It is much more common in boys than girls and diagnosed in the primary school years – In order to distinguish this condition from simply bad behaviour, there are 3 key things that must be present in order to satisfy the diagnostic criteria: –> Persistent – This means that the disruptive behaviour must be constant – If behaviour does fluctuate, then this could simply be an acute reaction to a change in the environment of the child.   –> Pervasive – This means that the disruptive behaviour must be

Medically Unexplained Symptoms

  Somatisation Disorder (SYMPTOMS) This is a disorder where patients believe that have physical symptoms present for at least 2 years, despite no physical or organic explanation – The most common symptoms mentioned usually involve the GI tract (abdominal pain) or the skin – Patients don’t accept negative test results and instead feel great distress and worry over their symptoms – It is more common in young women and can lead to multiple operations/investigations despite absence of disease   Hypochondrial Disorder (DISEASE) This is a disorder where patients believe they have a serious underlying disease e.g. cancer, HIV, AIDS –

Substance Abuse

Alcohol Alcohol abuse is defined as the regular or binge consumption of alcohol which can lead to physical, neuropsychiatric or social damage. – 1 unit (10mL) of alcohol is about equivalent to a small glass of wine, or a single peg of spirits. – Units = Volume (L) * ABV (%) – e.g. a 750ml bottle of wine, strength 12% has 750/1000 *12 = 9 units – Both men and women should drink no more than 14 units a week. If you do, it is best to spread this evenly over 3 days or more. There are several problems of

Eating Disorders

  Eating disorders refer to a group of conditions which are characterised by a disorganised pattern of food consumption which causes physical and emotional distress. – They are more common in females than males (3:1) with an onset around age 15-30. – The two most common are anorexia nervosa and bulimia nervosa, which share similar features.   Causes: With most psychiatric conditions, the aetiology can be considered using a biopsychosocial model. Biological: Genetics –> Twin studies have shown that eating disorders share a large genetic component 5-HT –> Altered brain serotonin contributes to dysregulation of appetite, mood and impulsivity   Psychological: Personality –> Higher

Dementia

The commonest aetiologies of dementia are: Alzheimer’s disease, Vascular and Lewy body dementia. – These conditions are difficult to diagnose and there are many assessment tools e.g. GPCOG, abbreviated mental test score (AMTS) and the mini-mental state examination (MMSE)   Investigation pathway: – 1st do a cognitive assessment e.g. MOCA – Exclude reversible causes – do FBC, U&E, LFTs, calcium, glucose, TFT, Vit B12 and folate (2) – Imaging – CT head (structural causes) and MRI (vasculature changes)    Alzheimer’s disease The number one cause of dementia in the UK is Alzheimer’s disease. The disease is characterised by a progression degeneration

Delirium

  This is an acute confusional state which is characterised by rapid onset of a global but fluctuating dysfunction of the CNS due to a variety of insults on the brain. – It is more commonly seen in people aged >65 and those with diffuse brain disease (dementia) – However, it can be experienced by anyone in hospital and is an important thing to keep watch out for   Causes – The main causes can be remembered using the acronym PINCH-ME: P – Pain In – Infection (often a UTI in elderly) C – Constipation H – Hydration M – Medication (drugs) E – Electrolytes (e.g. hyponatraemia) E –

Psychotic Disorders

  Psychosis is the misrepresentation of thoughts and perceptions that originate from a patient’s own mind which are experienced as reality. It is a symptom, not a diagnosis in itself and affects about 3% of the population.   Causes: With most psychiatric conditions, the aetiology of psychosis is seen with a biopsychosocial model: Biological: Genetics –> Twin studies have shown schizophrenia has 50% concordance rate in MZ  twins Dopamine–> Antipsychotics block D2 receptors whereas L-Dopa induces psychosis Neurodevelopmental –> Higher in people with low birth weight, developmental delay etc.   Psychological: Prodrome –> Often preceded by patients exhibiting anxiety, depression and ideas of reference

Stress Reactions

Acute stress reaction This is an acute reaction which occurs rapidly (minutes to hours) after a sudden and stressful event. – This can include sexual assault, an injury, a near-death experience etc. – This leads to several symptoms in response which usually arise very quickly and terminate within 3 days   Symptoms: – Initial state of being dazed and confused – Purposeless overactivity and withdrawal – Intense brief anxiety – Autonomic arousal –> sweating, dry mouth, vomiting   Management – Help patient to re-orientate with trauma-focussed CBT Prognosis – Most cases resolve rapidly within 3 days. If symptoms persist > 1 month,

Affective Disorders

  Affective (mood disorders) are characterised by emotional disturbances resulting in functional impairment.   Causes: The aetiology of affective disorders can be seen using a biopsychosocial model:  Biological: 5-HT–> Low levels of endogenous 5-HT and Na are thought to decrease mood Cortisol –> Overactivation of the HPA axis increases both risk and persistence of low  mood   Psychological: Beck’s triad –> Negative views about the self, the world and the future seen in depression Attributional style –> Higher incidence in people who blame themselves for life events   Social: Stress –> Linked to negative life events, adversity and childhood stress.   Depression This is a

Mental State Examination

The mental state examination is a way of observing and describing a patient’s current state of mind. – The purpose of the MSE is to get a cross-sectional description of the patient’s mental state – It is a time-specific snapshot of the patient’s current mental state (allows comparison to before) – This is combined with the psychiatric history, allowing clinicians to get the overall sense of the patient’s condition   Mental State Exam Acronym = A Brilliant Scientist Makes All Theories Too Perfectly Complicated “In-it”   Appearance This is a general description of the patient’s general look and appearance. Important to include the following: – An opening sentence summarising

Psychotherapy

Psychotherapy works by helping people understand why they feel as they do. It uses a combination of reflecting about past events, learning new coping strategies and building a therapist-patient relationship. – There are 3 main areas of psychological therapy, each with its advantages and disadvantages: i) Supportive therapies e.g. Counselling + Supportive Psychotherapy This is the least intense level of psychotherapy which is used for mild depression and anxiety – The sessions are unstructured but allow the patient to establish rapport, reflect and get reassurance – It is a non-direct way of solving the problem –> works for stress, bereavement,

Mental Health Act

The main piece of mental health legislation in England is the Mental Health Act 1983. This was amended by the Mental Health Act 2007.   Who it applies to? The Mental Health act applies to people with a “mental disorder” – any disorder/disability of mind – However, it excludes anyone with dependence on drugs or alcohol – Also excludes patients with learning disability, unless their condition causes abnormally aggressive or seriously irresponsible conduct – Applies to people of any age, but children are usually treated with consent of their parent.   Sectioning (compulsory admission to hospital) This part allows admission

Mental Capacity Act

Mental Capacity can be defined as the ability to make your own decisions. – This is very important as it gives patients autonomy and the right to make choices about their own healthcare – It becomes complicated when people lack capacity, as others have to make decisions about patients – The Mental Capacity act applied to people aged 16 and over. If the child is younger than 16, they only have capacity to make decisions provided that they are Gillick Competent.   5 key principles of mental capacity: i) A person is assumed to have capacity is assumed until it

Diagnoses in Psychiatry

Disease = the objective physical pathology and known aetiology Illness = the patient’s subjective distress caused by a condition   A big problem in psychiatry is that many conditions have no known or understood pathophysiological cause. – This makes it very difficult to diagnose diseases, since there is no demonstrable pathology. – Therefore, psychiatry talks about mental illness – this is a level of subjective distress which is greater in severity or duration than occurs in normal human experience – This allows us to diagnose patients regardless of our understanding of the condition and provide treatment   A diagnosis is the art

Renal Conditions

Vesicoureteral reflux This is the backflow of urine from the bladder into the ureter, which is divided into 2 types. – The backflow of urine predisposes children to recurrent infections which can later lead to renal scarring. – If left untreated, it is a risk factor for later developing progressive chronic kidney disease and hypertension   Primary VUR This is the most common type, which occurs due to a congenital defect in the vesicoureteral junction – This defect causes the ureters to enter the bladder in a more perpendicular fashion – This reduces the length of the ureter in the

Right-to-left Shunts

These conditions lead to the mixing of deoxygenated blood from the right side of the circulation and oxygenated blood in the left side of the circulation. – This leads to cyanosis, which can be divided into two types:   i) Peripheral cyanosis: – This occurs in the extremities such as feet and hands, is very common in the first 24 hours of life – It can also occur when the child is crying or unwell from any cause, and so is less serious   ii) Central cyanosis: – This is seen when the concentration of reduced haemoglobin in the blood

Prematurity

A premature infant is defined as a baby that is born alive before 37 weeks, which can be split into categories. – Antenatally, mothers are given magnesium sulphate (neuroprotective) and steroids to stimulate lung maturation – Extremely preterm = <28 weeks (these need transfer to tertiary centre) – Very preterm = 28 – 32 weeks – Moderate – Late preterm = 32-37 weeks   Premature babies are expected to have delayed developmental milestones. Therefore, to track their development, we need to correct the baby’s age according to how premature they were to see whether they are delayed from their expected

Bone Tumours

Bone tumours occur due to an abnormal proliferation of bone cells, and these can be either benign or malignant. – One of the most common symptoms that bone cancers produce is bone pain. However, this is a very ambiguous symptoms as bone pain can be poorly localised and due to many differentials. – Therefore, it is important to look out for particular red flags which may indicate bone cancer. Red Flag Symptoms Guidelines: – For unexplained bone pain/swelling in children and young people –> urgent X-ray within 48 hours – If results suggest sarcoma –> referral to specialist within 2

Prematurity

A premature infant is defined as a baby that is born alive before 37 weeks, which can be split into categories. – Antenatally, mothers are given magnesium sulphate (neuroprotective) and steroids to stimulate lung maturation – Extremely preterm = <28 weeks (these need transfer to tertiary centre) – Very preterm = 28 – 32 weeks – Moderate – Late preterm = 32-37 weeks   Premature babies are expected to have delayed developmental milestones. Therefore, to track their development, we need to correct the baby’s age according to how premature they were to see whether they are delayed from their expected

Neonatal Conditions

Transient Tachypnoea of the New-born (TTN) This is a condition which is the most common cause of respiratory distress in babies. – In the fetus, the lungs are filled with fluid, however this normally gets squeezed out during vaginal birth and the remainder gets absorbed shortly after birth into the bloodstream. – The problem arises when there is a delay in the reabsorption of lung fluid, which “drowns” lungs – A risk factor is C-section delivery (as fluid is not squeezed out of the lungs)   Symptoms: – Respiratory distress (tachypnoea, tachycardia, breathlessness)   Diagnosis: – Diagnosis of exclusion once

Epilepsy

Early Childhood (infancy – 2 years)   Benign sleep myoclonus These are myoclonic jerks that occur during sleep in young children, which stop if the child is woken up – They are complete benign and not real seizures and self-limiting, so only need to provide reassurance to parents.   Infantile spasms (West’s syndrome) This is a rare form of epilepsy in children which is usually 2nd to a serious neurological abnormality. – it is thought to be due to malfunction of the regulation of GABA transmission   Symptoms: – Triad of muscle spasm attacks – Lightning attacks –> (rapid flexion

Trisomies

Down’s syndrome This condition is caused by having an extra chromosome 21 leading to multiple complications   Inheritance: – Trisomy 21 (the risk of this increases with maternal age), – Some cases due to Robertsonian chromosome translocation (usually onto 14) – can be inherited   Risk: The risk of Down’s syndrome increases with maternal age. – Maternal age 20 – 1in 1500 – Maternal age 45 – 1 in 50  Maternal Age (years)  20  50  40  45  Risk  1 in 1500  1 in 800  1 in 100  1 in 50 Symptoms: Intellectual –> Learning disability, autism, early onset Alzheimer’s disease, delayed

Disorders of Sexual Development

There are host of conditions which may interfere with androgen signalling, which can lead to disorders of sexual development.   Congenital Adrenal Hyperplasia (CAH) This is an autosomal recessive disorder which causes an excess of sex steroids with hyperplasia of both adrenal glands. – It occurs due to a mutation in the enzymes which catalyse aldosterone and cortisol synthesis. – Deficiency in these enzymes means that the precursors get shunted towards sex steroid production leading to increase in androgens, leading to the masculinisation of individuals – In addition, Cortisol deficiency leads to high ACTH (lack of negative feedback), giving bilateral

Hip Conditions

Developmental Dysplasia of the hip (DDH) This represents a spectrum of conditions which affect the proximal femur and acetabulum, seen in new-borns – The junction between femur and acetabulum is not properly formed which results in deformity which can range from mild dysplasia to subluxation and full dislocation of the hip – It is much more common in females and more common in the left hip – The biggest risk factor is breech presentation, as well as a positive family history and oligohydramnios – Therefore, all breech babies born at 36+ weeks gestation require bilateral hip ultrasound scan at 6

Nausea and Vomiting

Gastro-oesophageal reflux disease (GORD) In children, Gastro-oesophageal reflux refers to the passage of gastric contents into the oesophagus. – Reflux is a common event and is self-limiting, with nearly all cases resolving spontaneously by 12 months. – It is characterised by vomiting/regurgitation after feeds but normal weight gain and growth – It is common in children due to a host of factors, such as inappropriate relaxation of the LOS because of functional immaturity, a short intra-stomach length of the oesophagus and a predominantly fluid-based diet   The term GORD refers to GOR that causes symptoms severe enough to merit medical treatment

Specific Infections

Scarlet Fever This is a systemic reaction to the toxin made by Group A haemolytic streptococci (usually S. pyogenes) – The infection usually occurs in children around the ages of 3-5 and it is a notifiable disease – The bacteria can be spread by inhalation of droplets or by direct contact through secretions – It affects a small number of people who have the strep throat or skin infection (impetigo) Symptoms: – General –> fever, malaise, headache, sore throat, swollen lymph nodes – Strawberry tongue – this initially has a white coating on it, after which red papillae poke through

Respiratory Tract Infections

Bronchiolitis This is a lower respiratory tract infection which leads to the blockage of small airway in the lungs – It can lead to significant respiratory distress, especially in children with other comorbidities such as prematurity, congenital heart disease or immunodeficiency. – It is most seen in children younger than 2 and cases spike in autumn and winter   Cause: Respiratory syncytial virus (most common), rhinovirus is second most common cause   Symptoms: – General –> coryza, fever, irritability, poor feeding – Dry cough – Coryzal symptoms precede – Wheeze and crackles on auscultation – Respiratory distress –> chest wall

Liver Conditions

One of the main symptoms of paediatric liver conditions is jaundice. Whilst neonatal jaundice is a common finding, jaundice in the first 24 hours is always pathological. – This may be due to haemolytic disorders, infection, or metabolic liver disorders like Crigler-Najjar syndrome. – The problem with this is that is can lead to raised levels of unconjugated bilirubin in the blood. – As this is fat soluble, it can cross the blood brain barrier is very neurotoxic and cause irreversible neurological symptoms.    Biliary Atresia This is a condition where there is progressive fibrosis and obliteration of the biliary

Prematurity

A premature infant is defined as a baby that is born alive before 37 weeks, which can be split into categories. – Antenatally, mothers are given magnesium sulphate (neuroprotective) and steroids to stimulate lung maturation – Extremely preterm = <28 weeks (these need transfer to tertiary centre) – Very preterm = 28 – 32 weeks – Moderate – Late preterm = 32-37 weeks   Premature babies are expected to have delayed developmental milestones. Therefore, to track their development, we need to correct the baby’s age according to how premature they were to see whether they are delayed from their expected

Neonatal Conditions

Transient Tachypnoea of the New-born (TTN) This is a condition which is the most common cause of respiratory distress in babies. – In the fetus, the lungs are filled with fluid, however this normally gets squeezed out during vaginal birth and the remainder gets absorbed shortly after birth into the bloodstream. – The problem arises when there is a delay in the reabsorption of lung fluid, which “drowns” lungs – A risk factor is C-section delivery (as fluid is not squeezed out of the lungs)   Symptoms: – Respiratory distress (tachypnoea, tachycardia, breathlessness)   Diagnosis: – Diagnosis of exclusion once

Birth Injuries

Hypoxic-Ischaemic Encephalopathy (HIE) This refers to injury to the brain, which is caused by being deprived of oxygen, due to a significant hypoxic event immediately before or during delivery – Damage occurs immediately from primary neural death and after due to reperfusion injury   Causes: Anything which decreases oxygen transfer across placenta or oxygenation of blood after birth   Symptoms: – Reduced level of consciousness – Reduced muscle tone and reflexes – Seizures – Inability to feed – Respiratory distress with difficulty in maintaining adequate respiration   Tests: – Umbilical cord blood gas analysis –> shows perinatal hypoxia – MRI/CT

Background

After birth, there are several physiological changes that occur that allow neonates to survive postnatal life. Antenatally: – Whilst the baby is in the uterus, the lungs are filled with fluid – The blood vessels that supply/drain the lungs are constricted (giving a high pulmonary vascular resistance) – Most blood from the right side of the heart bypasses the lungs via the ductus arteriosus and the foramen Ovale   Perinatally: – Shortly before and during labour, lung liquid production is reduced – During descent through the birth canal, the infant’s chest is squeezed, draining some lung liquid – Multiple stimuli

ENT Conditions

Acute Otitis Media This is an infection of the middle ear which is usually seen in children, due to Eustachian tube dysfunction – It usually occurs with a history of an URTI (S. Pnemoniae) giving fever and cough   Symptoms: Earache, fever, irritability and diarrhoea, but can lead to tympanic membrane perforation   Management: 1st line is 5-7-day course of amoxicillin (but strict antibiotic guidelines, only give if:) a) Systemically unwell or high risk of complications b) Younger than 2 years with bilateral otitis media c) Otorrhoea (discharge after ear drum perforation) d) If none of the above but if

Bone Tumours

Bone tumours occur due to an abnormal proliferation of bone cells, and these can be either benign or malignant. – One of the most common symptoms that bone cancers produce is bone pain. However, this is a very ambiguous symptoms as bone pain can be poorly localised and due to many differentials. – Therefore, it is important to look out for particular red flags which may indicate bone cancer. Red Flag Symptoms Guidelines: – For unexplained bone pain/swelling in children and young people –> urgent X-ray within 48 hours – If results suggest sarcoma –> referral to specialist within 2

Inflammatory Conditions

Juvenile Idiopathic Arthritis (JIA) This is a condition which causes arthritis in someone <16 years old and which lasts more than 6 weeks. – Officially there are 7 subtypes of JIA, but the most common is oligoarticular – If left untreated it lead to bony deformities, stunt growth and even delayed puberty   Oligoarticular This is the most common subtype in which 4 of fewer joints are affected during the first 6 months of disease   Symptoms: – Morning joint stiffness – Joint pain and swelling (affected medium sized joints: knees, ankles, elbows) – Stiffness which worsens after periods of

Knee Conditions

Chondromalacia patellae (CMP) This is a condition which leads to inflammation on the articular cartilage of the patella, which is more commonly seen in adolescent girls – The cartilage under the patella starts to deteriorate and breakdown becoming rough – This leads to friction when the child moves which can give pain and discomfort on movement – It can be caused from an acute injury to knee, or chronic friction between patella and groove in the femur.   Symptoms: – Pain at the front on the knee during sports e.g., football, rowing, tennis – Pain is worse after a period

Hip Conditions

Developmental Dysplasia of the hip (DDH) This represents a spectrum of conditions which affect the proximal femur and acetabulum, seen in new-borns – The junction between femur and acetabulum is not properly formed which results in deformity which can range from mild dysplasia to subluxation and full dislocation of the hip – It is much more common in females and more common in the left hip – The biggest risk factor is breech presentation, as well as a positive family history and oligohydramnios – Therefore, all breech babies born at 36+ weeks gestation require bilateral hip ultrasound scan at 6

Specific Gene Conditions

Fragile X syndrome This is a condition which is caused by a trinucleotide repeat in the FMR1 gene. – FMR1 gene encodes the FMRP protein found in highest concentration in brain and testes which is responsible for selective binding mRNA in brains and transporting it to nucleus and neural synapses.   Inheritance: X-linked dominant, meaning it is seen much more in males – The condition shows variable expressivity and reduced penetrance but genetic anticipation – It affects males more severely as women have random X-chromosome inactivation   In unaffected people, the FMR1 gene contains 5-44 repeats of the sequence CGG

Sex Chromosome Conditions

Klinefelter’s Syndrome This is a condition which leads to an additional sex chromosome, giving the karyotype 47 XXY – The offspring will be male due to the presence of the Y chromosome but will have deformities   Inheritance: Extra X chromosome due to nondisjunction during male or female meiosis   Symptoms: – Body –> Tall stature – Head and Neck –> Poor beard growth – Feminisation of body –> Gynaecomastia (increasing risk of breast cancer), less body hair, less muscle mass – Genitals –> Small poorly functioning testicles, lack of libido – Endocrine –> lack of secondary sexual characteristics, giving

Trisomies

Down’s syndrome This condition is caused by having an extra chromosome 21 leading to multiple complications   Inheritance: – Trisomy 21 (the risk of this increases with maternal age), – Some cases due to Robertsonian chromosome translocation (usually onto 14) – can be inherited   Risk: The risk of Down’s syndrome increases with maternal age. – Maternal age 20 – 1in 1500 – Maternal age 45 – 1 in 50  Maternal Age (years)  20  50  40  45  Risk  1 in 1500  1 in 800  1 in 100  1 in 50 Symptoms: Intellectual –> Learning disability, autism, early onset Alzheimer’s disease, delayed

Specific Infections

Scarlet Fever This is a systemic reaction to the toxin made by Group A haemolytic streptococci (usually S. pyogenes) – The infection usually occurs in children around the ages of 3-5 and it is a notifiable disease – The bacteria can be spread by inhalation of droplets or by direct contact through secretions – It affects a small number of people who have the strep throat or skin infection (impetigo) Symptoms: – General –> fever, malaise, headache, sore throat, swollen lymph nodes – Strawberry tongue – this initially has a white coating on it, after which red papillae poke through

Infection and Immunity

Maternal antibodies start transferring across to the fetus in the last trimester. When maternal antibody levels decline, infants can then become susceptible to viral infections. – In addition to the normal vaccines, there are selective immunisation groups: i) Hepatitis B –> gives to babies born to hep B infected mothers (3 shots) ii) TB –> BCG vaccine is given to infants born in high-risk country or with parent from high-risk country. (1 shot)  Contraindications to Vaccination   Neonatal Infections   Early Onset Infection This describes an infection which occurs with an onset <72rs after birth – The most common pathogen is Group

Puberty Conditions

Precocious puberty This is defined as the development of secondary sexual characteristics at an abnormally young age – In females, this is before the age of 8 and before the age of 9 in males. – Precocious puberty in females is usually due to premature onset of normal puberty whereas in males, it is more likely to be due to a pathological cause. – Precocious puberty in males is more likely to be due to a pathological cause   We can categorise precocious puberty into two types:   Central This is where there are disturbances to the central nervous system

Disorders of Sexual Development

There are host of conditions which may interfere with androgen signalling, which can lead to disorders of sexual development.   Congenital Adrenal Hyperplasia (CAH) This is an autosomal recessive disorder which causes an excess of sex steroids with hyperplasia of both adrenal glands. – It occurs due to a mutation in the enzymes which catalyse aldosterone and cortisol synthesis. – Deficiency in these enzymes means that the precursors get shunted towards sex steroid production leading to increase in androgens, leading to the masculinisation of individuals – In addition, Cortisol deficiency leads to high ACTH (lack of negative feedback), giving bilateral

Sexual Development

The foetal gonad is initially bipotential and undifferentiated. – In males, the SRY gene on the Y chromosome is responsible for the differentiation of the gonad into a testis – This leads to the production of testosterone and its metabolite dihydrotestosterone which causes development of male genitalia – In the absence of SRY, the gonads become ovaries and the genitalia female During puberty, the hypothalamus produces pulsatile secretions of GnRH. – This stimulates the anterior pituitary to produce LH and FSH which act on the gonads:   Testes: – LH acts on Leydig cells –> produces testosterone – FSH acts

Opthalmology

Squint (strabismus) This is an eye condition in which the two eyes are not aligned when looking at an object – The condition can be present occasionally or permanently, and usually affects one eye – The problem is that if present during childhood, it can result in amblyopia and loss of depth perception   Types: i) Concomitant: – This is where the deviation is the same magnitude regardless of gaze position – This occurs due to an imbalance in the power of the extraocular muscles of the eye – Can be convergent (more common) or divergent   ii) Incomitant: –

Epilepsy

Early Childhood (infancy – 2 years)   Benign sleep myoclonus These are myoclonic jerks that occur during sleep in young children, which stop if the child is woken up – They are complete benign and not real seizures and self-limiting, so only need to provide reassurance to parents.   Infantile spasms (West’s syndrome) This is a rare form of epilepsy in children which is usually 2nd to a serious neurological abnormality. – it is thought to be due to malfunction of the regulation of GABA transmission   Symptoms: – Triad of muscle spasm attacks – Lightning attacks –> (rapid flexion

Motor Conditions

Muscular Dystrophy This refers to a group of degenerative disorders which lead to skeletal muscle breakdown and weakness over time – There are over 30 different disorders, but a few are much more common that the rest. – Each has a different pattern on inheritance, which can be X-lined or autosomal.   General Diagnosis: – Blood test shows raised creatinine kinase –> due to breakdown of skeletal muscle – Genetic testing and muscle biopsy is diagnostic   General Management: – No cure available – Steroids slow muscle degeneration and anticonvulsants control seizures – Aim to maximise quality of life with

Renal Conditions

Vesicoureteral reflux This is the backflow of urine from the bladder into the ureter, which is divided into 2 types. – The backflow of urine predisposes children to recurrent infections which can later lead to renal scarring. – If left untreated, it is a risk factor for later developing progressive chronic kidney disease and hypertension   Primary VUR This is the most common type, which occurs due to a congenital defect in the vesicoureteral junction – This defect causes the ureters to enter the bladder in a more perpendicular fashion – This reduces the length of the ureter in the

Kidney Malformations

Multicystic Dysplastic Kidneys This is a kidney malformation resulting in a non-functioning kidney with large fluid-filled cysts – The kidney does not contain any renal tissue and there is no connection with the bladder. – It is due to failed union of the ureteric bud which forms the ureter, pelvis, calyces and collecting ducts and the nephrogenic mesenchyme which forms the kidney tissue Symptoms: – The affected kidney is non-functional – Potter syndrome (severe oligohydramnios and poor foetal development) will result if the lesion is bilateral   Management: – Half of the affected kidneys with involute by the age of

Liver Conditions

One of the main symptoms of paediatric liver conditions is jaundice. Whilst neonatal jaundice is a common finding, jaundice in the first 24 hours is always pathological. – This may be due to haemolytic disorders, infection, or metabolic liver disorders like Crigler-Najjar syndrome. – The problem with this is that is can lead to raised levels of unconjugated bilirubin in the blood. – As this is fat soluble, it can cross the blood brain barrier is very neurotoxic and cause irreversible neurological symptoms.    Biliary Atresia This is a condition where there is progressive fibrosis and obliteration of the biliary

Intestinal Conditions

Coeliac disease This is T cell- mediated damage of the small bowel villi due to gluten exposure, causing malabsorption – Gluten is found in wheat and grains and causes damage in the duodenum more than jejunum/ileum – It is associated with HLA-DQ2 and -DQ8, and onset often presents in childhood and again at 50-60 years. Symptoms: – Diarrhoea + Bloating + Abdominal pain – Malabsorption –> steatorrhea + weight loss – Fatigue + failure to thrive – Hyposplenism -Anaemia –> iron, folate and Vit B12 deficient – Osteoporosis + osteomalacia   Associated conditions: – Dermatitis herpetiformis –> IgA deposition in dermis

Nausea and Vomiting

Gastro-oesophageal reflux disease (GORD) In children, Gastro-oesophageal reflux refers to the passage of gastric contents into the oesophagus. – Reflux is a common event and is self-limiting, with nearly all cases resolving spontaneously by 12 months. – It is characterised by vomiting/regurgitation after feeds but normal weight gain and growth – It is common in children due to a host of factors, such as inappropriate relaxation of the LOS because of functional immaturity, a short intra-stomach length of the oesophagus and a predominantly fluid-based diet   The term GORD refers to GOR that causes symptoms severe enough to merit medical treatment

Developmental Conditions

Tracheo-oesophageal fistula This is a congenital defect which results in a connection between oesophagus and trachea – During early development, the oesophagus and trachea begin as a single tube – Normally, this tube divides into the 2 tubes in the first trimester of pregnancy – If this separation does not occur properly this leads a residual connection allowing food to enter the oesophagus. – Most common defect is proximal oesophageal atresia and distal oesophagus arising from trachea Symptoms: Antenatal: – Polyhydramnios (excess amniotic fluid in utero as baby cannot swallow fluid) – Absent stomach bubble on antenatal US (due to

Airway Obstruction

Inhaled Foreign Body This describes a foreign object which becomes lodged in the respiratory tract. – A foreign body can be anything which is easily inhaled, such as toys, buttons, pieces of food – It can cause an upper airway obstruction by lodging in the trachea/larynx or obstruct deeper in a bronchus   Upper airway obstruction This is a foreign body which obstructs the larynx or the trachea blocking airflow into the respiratory tract – This leads to choking and it is a life-threatening emergency   Symptoms: Signs of choking (coughing, breathlessness, loss of consciousness), cyanosis, stridor   Management: When

Obstructive Conditions

Asthma This is a disease which is due to reversible airway bronchoconstriction, most often due to allergic stimuli. – Whereas the symptoms and development are very similar to adults, the diagnostic criteria and management are different for childre   Diagnosis: For patients 5-16 years: – Bronchodilator reversibility test: a positive test is improvement in FEV1 of 12% or more – FeNO only requested if normal spirometry or negative BDR test – FeNO: a level of >= 35 parts per billion (ppb) is considered positive   For patients < 5: – Diagnosis based on clinical judgement Grading Severity of Asthma in

Respiratory Tract Infections

Bronchiolitis This is a lower respiratory tract infection which leads to the blockage of small airway in the lungs – It can lead to significant respiratory distress, especially in children with other comorbidities such as prematurity, congenital heart disease or immunodeficiency. – It is most seen in children younger than 2 and cases spike in autumn and winter   Cause: Respiratory syncytial virus (most common), rhinovirus is second most common cause   Symptoms: – General –> coryza, fever, irritability, poor feeding – Dry cough – Coryzal symptoms precede – Wheeze and crackles on auscultation – Respiratory distress –> chest wall

Outflow Obstruction

Coarctation of Aorta This refers to a narrowing of the aorta, which is divided into infantile and adult forms. – It occurs due to arterial duct tissue encircling the aorta at the point of insertion of the ductus arteriosus – When the duct closes, the aorta also constricts, causing a severe obstruction to left ventricle outflow – Coarctation of the aorta exists in both infantile and adult forms:    Infantile coarctation of aorta This occurs with a persistent ductus arteriosus and is associated with Turner syndrome – The coarctation occurs distal to aortic arch but before PDA   Symptoms: –

Common Mixing

These conditions lead to the mixing of deoxygenated and oxygenated blood in a chamber, which leads to progressive cyanosis. These conditions are rarer than septal defects.   Atrioventricular Septal Defect (AVSD) This is a condition where there is a defect in the middle of the heart with a single 5-leaflet valve between the atria and ventricles – It is due to poor fusion of the endocardial cushion with the atrial and ventricular septum – This 5-leaflet valve stretches across the AV junction but tends to leak allowing the mixing of blood. – It is associated with a diagnosis of Down’s

Right-to-left Shunts

These conditions lead to the mixing of deoxygenated blood from the right side of the circulation and oxygenated blood in the left side of the circulation. – This leads to cyanosis, which can be divided into two types:   i) Peripheral cyanosis: – This occurs in the extremities such as feet and hands, is very common in the first 24 hours of life – It can also occur when the child is crying or unwell from any cause, and so is less serious   ii) Central cyanosis: – This is seen when the concentration of reduced haemoglobin in the blood

Left-to-right Shunts

These shunts due to not cause cyanosis at birth, as the pressure in the left circulation is more than the right – The increased pressure in the pulmonary circulation leads to remodeling and pulmonary hypertension – This causes right ventricular hypertrophy and will eventually cause a reversal to a right-to-left shunt – This is called Eisenmenger’s syndrome which occurs about 10-15 years – This is a progressive condition which will lead to heart failure usually at the age of 40 if left untreated    Atrial septal defect (ASD) This is a defect which leads a residual hole between the two atria. –

Introduction

At birth there are changes in two major shunts in the circulation: i) Ductus arteriosus: – In the fetus, this connects the pulmonary artery to the aorta to allow bypassing of the foetal lungs – After birth, drop in maternal prostaglandins causes it to close   ii) Foramen Ovale: – In the fetus, left atrium pressure is low as little blood returns from the lungs – Right atrium pressure is higher as it receives all the systemic venous return (including blood from the placenta) – Therefore, the flap valve of the foramen ovale is held open and blood flows from

Infections

There are several infections that can be transmitted from the mother to the fetus. This can be dangerous as the fetus does not have a fully developed immune system and is more susceptible to serious complications. – Methods of vertical transmission include transplacental (across placenta in utero), during childbirth (due to contact between maternal and foetal body fluids) and breastfeeding.   The  pathogens which can be transmitted from mother to fetus can be remembered by acronym TORCH:   Chorioamnionitis This describes inflammation of the foetal membranes (chorion and amnion) usually due to bacterial infection. – The major risk factor is

Foetal Abnormalities

In the uterus, there are 3 variables that we monitor concerning the baby’s position.   Lie: – This is the relationship between the long axis of the fetus and that of the mother – It can be longitudinal, transverse or oblique   Presentation: – This describes the part of the fetus that first enters the maternal pelvis – Can be cephalic vertex (headfirst), breech, shoulder, face and brow   Position: – This describes the position of the foetal head as it exits the birth canal – Can be occipito-anterior (ideal), occipito-posterior or occipito-transverse   Abnormal lies, presentations and positions all

Labour Complications

Post-partum Haemorrhage (PPH) This is defined as blood loss of >500mls after delivery and it is divided into two subtypes:   Primary: – This is blood loss which occurs within 24 hours of delivery: – The causes can be remembered by thinking of the 4 T’s   Causes: Tone (uterine atony most commonly) Trauma (large baby) Thrombus (clots) Tissue (fibroids) – In addition, it can be caused by abnormalities of the placenta (placenta previa/accrete)   Management: – 1st line –> Apply bimanual compression (pressure aims to compress uterine arteries) with fundal massage   – 2nd line is medical management –>

Systemic Conditions in Pregnancy

Gestational Thrombocytopaenia A condition which causes transiently low platelet levels in pregnancy, not associated with maternal/fetus risks. – It occurs due to plasma dilution as well as decreased production of platelets during pregnancy. – The problem is that it is similar to immune thrombocytopenia (ITP) which can lead to several problems – Therefore, one must rule out ITP as it can affect both the mother and fetus (as antibodies cross the placenta)   Symptoms – This is usually asymptomatic – Gives isolated decrease in platelet levels which return to normal levels after pregnancy – Woman has no medical history of

Hypertensive Disorders

Pregnancy-induced hypertension This is defined as having a raised blood pressure which occurs after the 20th week of pregnancy without proteinuria. – If a woman has hypertension before, then this is counted as pre-existing hypertension. Whereas, if she develops other symptoms like proteinuria and oedema, this points to a diagnosis of pre-eclampsia – Gestational hypertension resolves after birth, but women have higher risk of pre-eclampsia in the next pregnancy – The major risk to watch out for is progression to pre-eclampsia (High BP with proteinuria)   The hypertension is defined as two separate readings confirming either: – Systolic >140mmHg or

Labour Complications

Post-partum Haemorrhage (PPH) This is defined as blood loss of >500mls after delivery and it is divided into two subtypes:   Primary: – This is blood loss which occurs within 24 hours of delivery: – The causes can be remembered by thinking of the 4 T’s   Causes: Tone (uterine atony most commonly) Trauma (large baby) Thrombus (clots) Tissue (fibroids) – In addition, it can be caused by abnormalities of the placenta (placenta previa/accrete)   Management: – 1st line –> Apply bimanual compression (pressure aims to compress uterine arteries) with fundal massage   – 2nd line is medical management –>

Placenta Conditions

Placenta Accreta This is a condition where the placenta attaches directly to the myometrium rather than the endometrium. – This is a problem as it gives a very high risk of heavy bleeding at time of vaginal delivery.   There are 3 different types of placenta accreta depending on the degree of invasion: i) Accreta –> Chorionic villi attach to the myometrium but will not invade into this layer ii) Increta –> Chorionic villi invade into the myometrium, the muscular layer of the uterus iii) Percreta –> Chorionic villi invade through the myometrium into the perimetrium   Risk factors: Anything which damages the lining of the

Placenta Conditions

Placenta Accreta This is a condition where the placenta attaches directly to the myometrium rather than the endometrium. – This is a problem as it gives a very high risk of heavy bleeding at time of vaginal delivery.   There are 3 different types of placenta accreta depending on the degree of invasion: i) Accreta –> Chorionic villi attach to the myometrium but will not invade into this layer ii) Increta –> Chorionic villi invade into the myometrium, the muscular layer of the uterus iii) Percreta –> Chorionic villi invade through the myometrium into the perimetrium   Risk factors: Anything which damages the lining of the

1st Trimester Conditions

Hyperemesis Gravidarum This is a condition which causes nausea and vomiting in pregnant women and accompanied with weight loss – Nausea and vomiting is common during pregnancy, and so the term hyperemesis gravidarum is only used if this leads to complications like dehydration or >5% weight loss – This condition is experiences in the first trimester and usually resolves by week 20 – It is believed to be due to raised beta-hCG sensitizing the vomiting centre – Severe vomiting leads to dehydration and electrolyte abnormalities in the mother   Risk factors: This is anything which leads to raised b-hCG –

1st Trimester Conditions

Hyperemesis Gravidarum This is a condition which causes nausea and vomiting in pregnant women and accompanied with weight loss – Nausea and vomiting is common during pregnancy, and so the term hyperemesis gravidarum is only used if this leads to complications like dehydration or >5% weight loss – This condition is experiences in the first trimester and usually resolves by week 20 – It is believed to be due to raised beta-hCG sensitizing the vomiting centre – Severe vomiting leads to dehydration and electrolyte abnormalities in the mother   Risk factors: This is anything which leads to raised b-hCG –

Foetal Abnormalities

In the uterus, there are 3 variables that we monitor concerning the baby’s position.   Lie: – This is the relationship between the long axis of the fetus and that of the mother – It can be longitudinal, transverse or oblique   Presentation: – This describes the part of the fetus that first enters the maternal pelvis – Can be cephalic vertex (headfirst), breech, shoulder, face and brow   Position: – This describes the position of the foetal head as it exits the birth canal – Can be occipito-anterior (ideal), occipito-posterior or occipito-transverse   Abnormal lies, presentations and positions all

Bleeding in the 1st Trimester

Bleeding in the first trimester of pregnancy is not an uncommon event but is a source of anxiety for mothers. – The reasons for this can range from idiopathic to serious conditions like an ectopic pregnancy. – In addition, it can also be due to gynaecological conditions like ectropion, trauma and polyps   If a woman has bleeding in the first trimester, management depends on the gestational age and her symptoms: If <6 weeks gestation: – Expectant management. Advise woman to repeat pregnancy test after 7-10 days – If this is positive then return to the clinic – If the

1st Trimester Conditions

Hyperemesis Gravidarum This is a condition which causes nausea and vomiting in pregnant women and accompanied with weight loss – Nausea and vomiting is common during pregnancy, and so the term hyperemesis gravidarum is only used if this leads to complications like dehydration or >5% weight loss – This condition is experiences in the first trimester and usually resolves by week 20 – It is believed to be due to raised beta-hCG sensitizing the vomiting centre – Severe vomiting leads to dehydration and electrolyte abnormalities in the mother   Risk factors: This is anything which leads to raised b-hCG –

Hypertensive Disorders

Pregnancy-induced hypertension This is defined as having a raised blood pressure which occurs after the 20th week of pregnancy without proteinuria. – If a woman has hypertension before, then this is counted as pre-existing hypertension. Whereas, if she develops other symptoms like proteinuria and oedema, this points to a diagnosis of pre-eclampsia – Gestational hypertension resolves after birth, but women have higher risk of pre-eclampsia in the next pregnancy – The major risk to watch out for is progression to pre-eclampsia (High BP with proteinuria)   The hypertension is defined as two separate readings confirming either: – Systolic >140mmHg or

Gestational Diabetes

This is the second most common medical complication in pregnancy after high blood pressure. – It is defined as any degree of glucose intolerance with onset/first recognition during pregnancy – In pregnancy, there is progressive insulin resistance which means a higher volume of insulin is needed to respond to a normal level of blood glucose – A woman with a borderline pancreatic reserve is unable to respond to the increased insulin requirement – This results in transient hyperglycaemia giving gestational diabetes – After the pregnancy, insulin resistance falls and the hyperglycaemia usually resolves – However, whilst it is usually asymptomatic

Postpartum Conditions

After giving birth, several women experience some symptoms, which can take a while to return to normal: – Urinary: Pain when passing urine and stress incontinence – GI: Inability to pass stool for a few days after birth and increased risk of haemorrhoids – Genital: Pass Lochia (this is vaginal discharge containing blood, mucous and uterine tissue Can continue for 6 weeks after birth and slowly turns brownish colour before finally stopping   However, there are situation where women experience longer term, more serious symptoms after pregnancy    Postpartum Thyroiditis This is a condition where there is dysfunction of the

Labour Complications

Post-partum Haemorrhage (PPH) This is defined as blood loss of >500mls after delivery and it is divided into two subtypes:   Primary: – This is blood loss which occurs within 24 hours of delivery: – The causes can be remembered by thinking of the 4 T’s   Causes: Tone (uterine atony most commonly) Trauma (large baby) Thrombus (clots) Tissue (fibroids) – In addition, it can be caused by abnormalities of the placenta (placenta previa/accrete)   Management: – 1st line –> Apply bimanual compression (pressure aims to compress uterine arteries) with fundal massage   – 2nd line is medical management –>

Oligo/Polyhydramnios

Oligohydramnios This is the term used to describe an abnormally low level of amniotic fluid during pregnancy – It is characterised by having less than <500ml at 32-36 weeks and amniotic fluid index (AFI) <5th percentile – It can lead to abnormal foetal presentations and underdevelopment of foetal parts   Causes: – Low production of foetal urine –> Renal agenesis (Potter’s syndrome), dysplastic kidney, obstructive uropathy – Poor Placental diffusion –> Pre-eclampsia – Leakage of amniotic fluid –> Premature rupture of membranes   Complications: – Abnormal lie and development – Poor respiratory development –> amniotic fluid is needed for maturation

Twins

The probability of having twins is just under 1% which means that it is not very uncommon. – There are two main types of twins, according to whether one or two egg cells has been fertilised.   Monozygotic (MZ) twins This describes twins which develop from a single ovum which then divides into 2 identical embryos – In monozygotic pregnancies, there are various ways in which the amniotic sac and placenta are shared. i) Dichorionic, diamniotic (DCDA) Each twin has its own individual amniotic sac and placenta – About 1/3 of monozygotic pregnancies   ii) Monochorionic, diamniotic (MCDA): These twins

Foetal Abnormalities

In the uterus, there are 3 variables that we monitor concerning the baby’s position.   Lie: – This is the relationship between the long axis of the fetus and that of the mother – It can be longitudinal, transverse or oblique   Presentation: – This describes the part of the fetus that first enters the maternal pelvis – Can be cephalic vertex (headfirst), breech, shoulder, face and brow   Position: – This describes the position of the foetal head as it exits the birth canal – Can be occipito-anterior (ideal), occipito-posterior or occipito-transverse   Abnormal lies, presentations and positions all

Infections

There are several infections that can be transmitted from the mother to the fetus. This can be dangerous as the fetus does not have a fully developed immune system and is more susceptible to serious complications. – Methods of vertical transmission include transplacental (across placenta in utero), during childbirth (due to contact between maternal and foetal body fluids) and breastfeeding.   The  pathogens which can be transmitted from mother to fetus can be remembered by acronym TORCH:   Chorioamnionitis This describes inflammation of the foetal membranes (chorion and amnion) usually due to bacterial infection. – The major risk factor is

Pre-existing Conditions in Pregnancy

Having chronic diseases and taking medication can increase the risk of harm to the mother and the fetus.   Diabetes Mellitus in Pregnant Women Like gestational diabetes, uncontrolled diabetes is dangerous in pregnant woman – This is because the placenta secretes cortisol and progesterone which increases insulin resistance – This leads to complications for the mother as well as for the fetus. – Babies can be large (or small) for gestational age (macrosomia) which can make delivery difficult – In addition, there is a higher risk of the baby being born with hypoglycaemia, jaundice and polycythaemia   Management: This involves managing

Systemic Conditions in Pregnancy

Gestational Thrombocytopaenia A condition which causes transiently low platelet levels in pregnancy, not associated with maternal/fetus risks. – It occurs due to plasma dilution as well as decreased production of platelets during pregnancy. – The problem is that it is similar to immune thrombocytopenia (ITP) which can lead to several problems – Therefore, one must rule out ITP as it can affect both the mother and fetus (as antibodies cross the placenta)   Symptoms – This is usually asymptomatic – Gives isolated decrease in platelet levels which return to normal levels after pregnancy – Woman has no medical history of

Placenta Conditions

Placenta Accreta This is a condition where the placenta attaches directly to the myometrium rather than the endometrium. – This is a problem as it gives a very high risk of heavy bleeding at time of vaginal delivery.   There are 3 different types of placenta accreta depending on the degree of invasion: i) Accreta –> Chorionic villi attach to the myometrium but will not invade into this layer ii) Increta –> Chorionic villi invade into the myometrium, the muscular layer of the uterus iii) Percreta –> Chorionic villi invade through the myometrium into the perimetrium   Risk factors: Anything which damages the lining of the