Jennifer Conn

Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations

OBJECTIVE—Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor (HNF)-4α are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic β-cells. HNF-4α has a key role in regulating the multiple transcriptional factor networks in the islet. Recently, heterozygous mutations in the HNF4A gene were reported to cause transient hyperinsulinemic hypoglycemia associated with macrosomia. RESEARCH DESIGN AND METHODS—Three infants presented with macrosomia and severe hypoglycemia with a positive family history of MODY. The hypoglycemia was confirmed to be due to hyperinsulinism, and all three patients required diazoxide therapy to maintain normoglycemia. Two of the three infants are still requiring diazoxide therapy at 8 and 18 months, whereas one of them had resolution of hyperinsulinemic hypoglycemia at 32 months of age. RESULTS—Sequencing of the HNF4A gene identified heterozygous mutations in all three families. In family 1, a frameshift mutation L330fsdel17ins9 (c.987 1003del17ins9; p.Leu330fs) was present in the proband; a mutation affecting the conserved A nucleotide of the intron 2 branch site (c.264–21A>G) was identified in the proband of family 2; and finally a nonsense mutation, Y16X (c.48C>G, p.Tyr16X), was found in the proband of family 3. CONCLUSIONS—Heterozygous HNF4A mutations can therefore cause both transient and persistent hyperinsulinemic hypoglycemia associated with macrosomia. We recommend that macrosomic infants with transient or persistent hyperinsulinemic hypoglycemia should be screened for HNF4A mutations if there is a family history of youth-onset diabetes.

Simulation in clinical teaching and learning

Simulation‐based education (SBE) is a rapidly developing method of supplementing and enhancing the clinical education of medical students. Clinical situations are simulated for teaching and learning purposes, creating opportunities for deliberate practice of new skills without involving real patients. Simulation takes many forms, from simple skills training models to computerised full‐body mannequins, so that the needs of learners at each stage of their education can be targeted. Emerging evidence supports the value of simulation as an educational technique; to be effective it needs to be integrated into the curriculum in a way that promotes transfer of the skills learnt to clinical practice. Currently, SBE initiatives in Australia are fragmented and depend on local enthusiasts; Health Workforce Australia is driving initiatives to develop a more coordinated national approach to optimise the benefits of simulation.

Revealing the diagnosis of androgen insensitivity syndrome in adulthood

It is always going to be difficult for a woman to find out that she is genetically male. What are the ethical issues generated by being confronted by outdated practice on disclosure?

Diabetes Australia position statement. A new language for diabetes: Improving communications with and about people with diabetes

Diabetes is the fastest growing chronic condition in Australia, affecting 1.7 million Australians, requiring daily self-care, and known to reduce quantity and quality of life. On average, people with diabetes experience greater emotional distress than those without diabetes. One source of distress can be the language used to refer to diabetes, its management and the person with diabetes. The way verbal and written language is used reflects and shapes peoples thoughts, beliefs and behaviours. Language has the power to persuade, change or reinforce beliefs and stereotypes - for better or worse. Words do more than reflect peoples reality: they create reality and affect how people view the world and their diabetes. Language needs to engage people with diabetes and support their self-care efforts. Importantly, language that de-motivates or induces fear, guilt or distress needs to be avoided and countered. Diabetes Australia believes optimal communication increases the motivation, health and well-being of people with diabetes, and that careless or negative language can be de-motivating, is often inaccurate, and can be harmful. Diabetes Australia developed this position statement to encourage greater awareness of the language surrounding diabetes and provide recommendations for more careful and positive language use.

Comparing the academic performance of graduate- and undergraduate-entry medical students

Medical Education 2010 44: 197–204

What can clinical teachers learn from Harry Potter and the Philosopher's Stone?

Many clinical teachers acquire a working knowledge of the principles of teaching and learning through observation, by adopting positive and rejecting negative examples of clinical instruction. Well selected vignettes of teaching behaviours taken from contemporary film and literature may provide rich substrate by which to engage clinical teachers in discourse about instructional technique. This paper draws on J K Rowlings novel and its companion film, Harry Potter and the Philosophers Stone, and critically analyses the teaching styles of the staff at Hogwarts School of Wizardry and Witchcraft in the context of contemporary generic and medical education literature. Specifically, it argues that effective teachers demonstrate not only an in‐depth knowledge of their discipline but possess a keen appreciation of the cognitive changes that occur in their students during the learning process. They are, furthermore, proficient in core instructional skills such as small group facilitation, feedback and questioning. Most importantly, effective teachers model appropriate attitudes in their professional setting and possess highly developed personal qualities such as creativity, flexibility and enthusiasm.

Clinical teaching and learning: from theory and research to application

Learning in the clinical setting is the cornerstone of medical school education, but there are strong imperatives to optimise the ways in which students acquire clinical expertise. Deliberate practice is characterised by attention, concentration, effort and repetition of skills; it is an important tool for developing and maintaining professional expertise. Research has led to a greater understanding of how medical students develop core clinical skills, especially in the areas of diagnostic reasoning, communication and physical examination. Advances in information technology and instructional design are helping to strengthen the links between formal educational activities and opportunistic learning in the clinical setting.

Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene

Recent research has demonstrated that mutations of the hepatocyte nuclear factor 4‐alpha (HNF4A) gene are associated with neonatal hyperinsulinaemic hypoglycaemia. Mutations of this gene also cause one of the subtypes of monogenic diabetes, a form of diabetes formerly known as maturity‐onset diabetes of the young. This article describes a family discovered to have a novel frame‐shift mutation of the HNF4A gene in the setting of early‐onset maternal diabetes and severe neonatal hyperinsulinaemic hypoglycaemia. The implications of a diagnosis of HNF4A gene mutation for obstetric and paediatric practice are discussed.

Improving medical student performance in adolescent anti-smoking health promotion

Background We developed a 1‐hour teaching seminar for medical students on anti‐smoking health promotion for adolescents. We report the development of the programme and a performance‐based evaluation.

Working with young people: evaluation of an education resource for medical trainees.

Many health professionals report interest in consulting more effectively with young people but have unmet training needs. We set out to evaluate a teaching resource in adolescent health and medicine that was designed for Australian trainees in specialist medicine.