Year 2 HD2: Human Development 2

Lecture: Applied Anatomy of the Female Reproductive System

1. Describe the anatomy of the pelvic floor.
2. Explain the anatomical relations of the uterus and the ovaries.
3. Describe the blood supply to the uterus.
4. Outline the anatomy of the perineum.
5. Relate the nerve supply of the female pelvis and perineum to methods of anaesthesia.

Lecture: Fertility

1. Management and treatment of subfertility.
2. Describe what investigations can be performed to establish the causes of subfertility.
3. Identify the main causes of subfertility.
4. Explain the biological principles involved in the two learning outcomes above

Lecture: Problems of the Male Reproductive System

1. Other problems (Peyronie’s and variocele)
2. Describe the lifetime changes of the prostate and its examination
3. Discuss the formation of inguinal hernias, the relevant anatomy and the possible surgical interventions
4. Discuss erectile dysfunction in relation to the relevant anatomy, physiology, biochemistry and pharmacology

Lecture: The Effects of Infections in Early Pregnancy

1. Review the ethical issues regarding infection during pregnancy
2. Describe preventative measures and available treatments
3. List the infections that can commonly harm a pregnancy
4. Describe the main foetal abnormalities associated with these infections

Microanatomy 1: Female Pathology

Lecture: Placental Problems in Pregnancy

1. List the main problems associated with placentation, placentation sites and placental development: a) miscarriage b) ectopic c) trophoblastic disease d) hypertension/PET e) placental praevia/abruption
2. Explain the effect on perinatal mortality and morbidity
3. Describe the effect of these complications on the mother and the fetus

Lecture: Medical Problems of Pregnancy

1. Discuss the pathogenesis and presentation of diabetes, anaemia and non-viral infections in pregnancy
2. Describe the effect of these complications on the mother and the fetus
3. Discuss the management of these complications

Lecture: Complications of Labour

1. Define the stages of labour
2. Discuss the complications of Stage 1 - failed induction, primary and secondary arrest, fetal distress
3. Discuss the complications of Stage 2 - failure to progress, maternal and fetal distress, operative delivery and uterine rupture
4. Discuss the complications of Stage 3: post-partum haemorrhage, uterine inversion, amniotic fluid embolism
5. Discuss the pharmacology relevant to the complications of labour

Lecture: Maternal Post-Partum Problems

1. Explain the main risks and problems associated with the puerperium
2. Describe the definition, aetiology, investigation and management of post-partum haemorrhage
3. Describe the aetiology, investigation and management of pregnancy-associated thromboembolism
4. Describe the aetiology, investigation and management of psychiatric problems in the puerperium

Lecture: Problems of Low Birth Weight and Prematurity

1. Understand the contribution of prematurity and fetal growth restriction as causes of low birth weight (LBW)
2. Know the definitions of LBW, very low birth weight (VLBW), prematurity and their effects on survival
3. List the main problems associated with being born prematurely, with reference to its effect on organ development, particularly with regard to respiratory, brain and gastrointestinal problems.
4. Describe the mechanisms of temperature control in low birth-weight babies
5. Discuss the potential nutritional consequences of being a low birth-weight baby, and ways to deal with them
6. Discuss the outlook for low birth-weight babies, and identify some of the ethical issues in dealing with sick low birth-weight babies
7. Discuss the psycho-social effects of a premature birth

Lecture: Congenital Heart Disease and Other Abnormalities

1. Describe the basic embryology of congenital heart disease
2. Explain the mechanisms by which the common forms of cyanotic heart disease produce cyanosis
3. Explain the circulatory pathophysiology of common forms of acyanotic congenital heart disease
4. Describe the way in which circulatory changes at birth may contribute to the delayed presentation of congenital heart disease, with particular reference to the ductus arteriosus and foramen ovale.
5. Discuss the links between abnormal structure and function in the major non-cardiac malformations (particularly neural tube defect, gastroschisis, cleft lip and palate)
6. Outline the implications of lethal versus treatable congenital conditions.

Lecture: Investigating a Genetic Disorder in Childhood

1. Explain how you could establish whether or not a variant is pathogenic
2. Describe the role of the clinical geneticist
3. Describe the breadth of inherited conditions
4. Explain the basic principles of genetic linkage analysis.
5. Describe the different types of genetic markers that can be used in this analysis and how they are detected
6. Explain how candidate genes may be selected, both on the basis of their position and function
7. Discuss the implications for the families affected by a genetic disorder
8. Take an accurate family history and present the results as an informative pedigree

Lecture: Illness in the Full Term Baby

1. How we can think about management and treatment
2. Understand important serious neonatal conditions in term infants – not exhaustive
3. Understand physiologic, biochemical or cellular basis of the illnesses

Lecture: Perinatal and Childhood Mortality

1. Define perinatal, neonatal and infant mortality.
2. Discuss the main causes of mortality in the perinatal, neonatal and infancy periods.
3. Explain methods available to avoid perinatal loss
4. Know the major causes of death in childhood.

Microanatomy 2: Male Reproductive Pathology

Lecture: Child Protection

Lecture: Endocrine Disorders of Development and Growth

1. Understand that failure of growth has many causes

Lecture: Common Child Psychiatric Disorders

1. Understand the common disorders seen in child mental health clinics, in particular: a) autism b) attention deficit hyperactivity disorder (ADHD) c) anxiety and depression d) psychosis e) behavioural problems
2. Describe the important features of different disorders of child mental health

Lecture: Gastrointestinal Disorders in Childhood

Lecture: The Pathology of Death in Childhood

1. List the common causes of death in infancy and childhood
2. Discuss the difference between unexpected death in infancy and sudden infant death (SIDS)
3. Explain the reasons for doing a post mortem in cases of unexpected death in infancy
4. Discuss the epidemiology and risk factors of sudden infant death (SIDS)

Lecture: Sexually Transmitted Diseases

Lecture: Bacterial, Fungal & Protozoal Infections In Childhood

1. Understand why infection may have non-specific symptoms and progress more rapidly in children.
2. Know the signs and symptoms of specific bacterial, fungal & protozoal infections in childhood (including the definition of fever).
3. Understand childhood-specific treatment issues for bacterial, fungal & protozoal infections.

Lecture: Why Do Infants Wheeze?

1. Describe the physiological mechanisms for wheeze in young children
2. Evaluate the epidemiological studies of pre-school wheeze and the concept of asthma phenotypes
3. Discuss the environmental factors that increase the vulnerability of young children to develop wheeze
4. Describe the pharmacological rationale for the treatment of pre-school wheeze

Microanatomy 3: Fetal Development and Pathology

The learning objectives will be issued at the start of this session

Lecture: Viral Infections in Childhood

Lecture: Cancer in Children

1. Outline the common malignancies in children and understand why these malignancies are more likely in childhood.
2. Describe the common presentation, cellular origins, molecular pathology and treatment of: a. Acute lymphoblastic leukaemia; b. Wilms’ tumour ; c. Retinoblastoma; d. Neuroblastoma.
3. Discuss high-risk groups for developing malignancies in childhood.

Lecture: Developmental Delay and Childhood Disability

1. Describe how children with a disability may present
2. Describe how children with a disability are assessed
3. Discuss the implications for the family of having a child with a disability
4. Discuss the difference between a lesion, impairment, disability and handicap
5. Define the major causes of childhood disability, including cerebral palsy and trisomy 21.

Lecture: Health Across the Life Course

1. Review evidence base for a life course approach to health
2. Understand risk as a form of medical knowledge
3. Review the Barker hypothesis
4. Review key UK birth cohort studies used to study health across the life course
5. Consider implications for the healthcare of children

HD2 - PBL1: SUBFERTILITY

Note: You will have met Sarah in HD1 when she gave birth to Brad. You then met her again in Met2 when she had a pituitary tumour. This is a continuation of her story……

Thirty nine year old Sarah and her new partner Mike, a 42-year-old body builder, have been together for 18 months and were looking forward to having a child together. Sarah already has a 3-year-old son named Brad and Mike has fathered a 10-year-old daughter.

About two years ago Sarah had a non-functional pituitary adenoma removed and, as a result, had hormone replacement, which included oestrogen and progesterone (in the form of a combined hormone replacement tablet Prempak-C 1.25mg) to maintain her bone health, secondary sexual characteristics and libido.

Sarah stopped taking the pill hoping her menstrual cycle might return, although her endocrinologist had explained it might be unlikely.  Sarah is very disappointed as she hasn’t had a period and, despite having regular unprotected intercourse for the last year, has been unable to conceive.

Sarah realises that it may be difficult for her to get pregnant, not just because of the pituitary tumour, but also due to her age. She’s also worried that she may have other problems that she’s read about online, such as blocked tubes or polycystic ovaries.

Sarah and Mike go to see their GP, Dr Rahman, to discuss their concerns. He explains that it may be possible to stimulate ovulation and refers Sarah back to her endocrinologist for further tests and advice.  Dr Rahman also arranges preliminary investigations including a semen analysis for Mike and blood tests for Sarah.

At the follow-up consultation, Dr Rahman reported that Mike’s seminal analysis showed some abnormalities (see below) and that Sarah’s LH and FSH were low normal.

Mike’s semen analysis results:

*WHO LRL = World Health Organisation lower reference limit

All other tests were within normal range.

Sarah enquired what options would exist if they ultimately need fertility treatment.  She is especially concerned about a report she read in The Independent describing a ‘post code lottery’.

http://www.independent.co.uk/life-style/health-and-families/health-news/nhs-must-end-ivf-postcode-lottery-watchdog-says-9811944.html

NICE guidelines on fertility problems:

http://www.nice.org.uk/guidance/cg156/chapter/1-recommendations

HD2 - PBL2: POOR INTRAUTERINE GROWTH

Maria is in the thirty-sixth week of her third pregnancy when she attends for a routine antenatal check-up.  Her previous two pregnancies were entirely normal and both babies had weighed about 8 lbs at birth. She states that this pregnancy, with her new partner, has felt different from the start. In addition, there was a brief episode of painless bleeding at about 10 weeks, which was not repeated.  On examination, all observations are normal (blood pressure, pulse, urine).  However, measurement of the symphysis-fundal height suggests that the pregnancy is equivalent to only 32 weeks, and this conclusion is supported by ultrasound measurement of the fetal abdominal circumference and reduced amniotic fluid volume.  Doppler measurements of umbilical blood flow were also abnormal. 

Maria’s sister, Amanda, had pre-eclampsia in her first pregnancy and was admitted to hospital for a period of time. Her baby was born small for dates weighing 2.2kg at term. Maria is worried that this is why her baby is small although she doesn’t have any of the symptoms that Amanda experienced. 

Discussions are held with Maria and her partner about an early delivery, addressing the risks and benefits of expediting the delivery of the baby.  

HD2 - PBL3: BIRTH ASPHYXIA

A male baby is delivered at term using Ventouse. There had been Type 2 decelerations on the fetal heart rate tracing during the labour, and the baby was born covered in meconium. He did not breathe but had a heart rate of 50 beats per minute. The baby was resuscitated from birth and the neonatal team were called to continue resuscitation. At 5 minutes of age the baby was still blue and only had a heart rate of 60 per minute; by 10 minutes of age the heart rate was 120 and the baby started to have occasional gasps. Apgar scores at 1, 5, and 10 minutes were 1, 1 and 3. He was attached to a ventilator and transferred to the neonatal intensive care unit. An EEG was performed and the staff instituted a treatment to cool the baby to a core temperature of 34ºC using a cooling blanket. Regular respirations were established and he was extubated at 12 hours. However, he remained very jittery with a high-pitched cry and the nurses reported that he felt very floppy. On the second day he was noticed to have tonic-clonic convulsions and apnoeic attacks. Blood glucose at the time was 3mmol/l. He required ventilation again but the tonic-clonic convulsions continued despite large doses of phenobarbitone. An MRI scan showed areas of infarction in both cerebral hemispheres, with an abnormal signal in the basal ganglia and the internal capsule, indicating a poor prognosis. The neonatologist arranged to talk to the parents about the prognosis, and to discuss continuation of life support with them.

HD2 - PBL4: FALTERING GROWTH

Ankeet, who is 2 years old, has been taken to the GP because he remains unwell after suffering a bout of gastroenteritis.

His mother explains that he started vomiting and having diarrhoea about three weeks ago and at the same time he also had a high temperature and was complaining of tummy ache. She added that other children at the toddler group had been suffering from the same thing.

She said that he was feeling a lot better now, his temperature had returned to normal and he had stopped being sick within a few days.  However, he has continued to have diarrhoea, and he sometimes seems to have abdominal pain and wind.  He is passing about five watery stools a day and his bottom is very sore. She wondered if the diarrhoea was being caused by all the water and milk she is giving him because she had read that she should give him plenty of fluids.  She wants to know how Ankeet got this tummy upset and why he’s still got such a bad case of diarrhoea.

The doctor explains that the most likely cause of Ankeet’s gastroenteritis is a rotavirus infection and it was unfortunate that he had just missed being given the new vaccine. He goes on to explain that Ankeet’s continuing diarrhoea may be caused by lactose intolerance and that he will arrange a simple stool test which will look for reducing substances and test the pH. 

The GP weighs Ankeet and finds that he has lost weight, showing a rapid drop on his centile chart. Since birth his weight had always been steady - just below the 50th centile - but it had now fallen across two centiles. 

HD2 - PBL5: DEATH IN INFANCY

Sarah, now 38 weeks pregnant, was walking through the hospital on her way to her antenatal appointment when she bumped in to KT, who she’d met at antenatal classes some weeks before. She noticed that KT was no longer pregnant and couldn’t wait to ask all about her new baby and the delivery.  Sarah soon realised that all was not right as KT looked tired and distressed. KT explained that she’d had a baby boy 3 weeks ago but he’d caught whooping cough and had been admitted as an emergency to the paediatric ward.  He was now being treated with a course of antibiotics and hopefully would make a full recovery.

Sarah remembered hearing about the whooping cough epidemic that happened at the end of 2012 when 13 babies had died of the illness. She was very concerned that her baby might get it but was relieved to discover that her GP surgery was offering the vaccination to pregnant women from 28 weeks onwards. KT explained that she hadn’t had the vaccination.

KT also confided that she wasn’t sure whether to allow her son to receive any vaccinations.  She was concerned about the ever-increasing number of vaccinations babies have these days, plus as she had read posts from friends on Facebook that the safety of vaccines is controversial.

KT remembered her friend, Sandra, losing her 6 month old baby about 10 years ago and the cause of death on the certificate, following an autopsy, had been Sudden Infant Death Syndrome (SIDS).  Sandra went on to have another baby last year which was identified as having medium-chain acyl coenzyme A dehydrogenase deficiency (MCADD) by the neonatal screening test. This meant the baby was given the appropriate diet to prevent potentially fatal episodes of illness.

HD2 - PBL6: DEVELOPMENTAL DELAY AND DISABILITY

Nicholas has Down syndrome. His father is 34 and his mother 29 years of age. The diagnosis was suspected at birth and testing of his chromosomes then confirmed that he had a 14/21 translocation. The family had seen a geneticist to explain the risks of any future babies having Down syndrome.  An echocardiogram had shown no evidence of congenital heart disease and neonatal hearing screening had been normal.

His parents had been made aware of his probable developmental and learning difficulties. He attends his local centre for children with developmental problems and disabilities and has been visited by Portage staff. His parents have also worked with Portage and the multi-disciplinary team and are using sign language with him at home.  His parents had also been told that he would have to have regular thyroid function tests performed, and that he may be prone to other problems as childhood progressed.  They were still a little unclear about what would happen to him when he became an adult and had read something about a need to discourage head stands and contact sports as well as an increased risk of Alzheimer’s disease in young adults with Down Syndrome. 

Nicholas is now 2½ years old.  His physical milestones were that he had started crawling at around 15 months of age and had started walking at 2 years of age.  However, his parents were concerned that he did not say anything (although he uses a few signs) and wondered if he may be deaf.

He has been seen by a paediatric audiologist, who noted that his hearing was reduced bilaterally. On examination he had “glue ears”. A referral to an ENT was suggested for consideration of surgery.  The audiologist also mentioned that children with Down syndrome and glue ear are sometimes fitted with hearing aids until their hearing improves.