S2E33: Ep 33 | Fragile X: The Fra(X)-men

Fragile X is the most common form of inherited intellectually disability.

It is a sex-linked chromosomal disorder that affects boys much more commonly than girls. However, it took some ingenious foresight combined with advancing genetic techniques in the 1970s and 1980s to isolate the exact cause of this condition.

This is a challenging diagnosis for General Practitioners, Specialists, Patients and their families.

A multi-disciplinary approach is essential and, as Professor Graeme Suthers always says ‘listen to your patients and don’t be afraid to seek advice’.

This podcast is eligible for 1 RACGP CPD point – self reporting.

GUEST HOST & INTERVIEW

Professor Graeme Suthers
BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD

Prof Suthers is Sonic Healthcare’ Director of Genetics. He is one of Australia’s most respected experts in the field of genetics, and is nationally and internationally recognised for his expertise in genetic disorders, testing and clinical service provision.
clinpath.com.au/about-us/clinpath-leadership/our-pathologists/professor-graeme-suthers/

This Pathological Life is produced by Clinpath Pathology in South Australia.

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S2E32: Ep 32 | The Social Media Literati

Information in the past (ergo knowledge) was restricted to the few. However, the social media landscape provides individuals with their personal megaphone to the world.

As most are aware, there are numerous benefits this provides, such as engaging directly with an audience. However, these benefits have to be balanced with a price, namely personal data and professional boundaries.

Traditionally, Medical Practitioners, Doctors, and Specialists have approached social media cautiously.

We discuss the pros and cons of medical practitioners accessing/using social media with Lee Aase, Director, Mayo Clinic Social Media Network and Mayo Clinic’s Social & Digital Innovation team.For Lee, he has been working in the social medial field for over twenty years from politics to medical institutions.

We discuss what information is being collected, how that can be used, and the best way Doctors can use social media.

GUEST INTERVIEW

Lee Aase

Director, Mayo Clinic Social Media Network

Aase.lee@mayo.edu | @LeeAase

Lee Aase is director of the Mayo Clinic Social Media Network, which provides training resources, educational and networking events and a collaboration platform for health care professionals who want to safely and effectively apply social and digital strategies to fight disease, promote health and improve health care.

Lee also leads Mayo Clinic’s Social & Digital Innovation team, which manages Mayo Clinic’s presence on general purpose social networks like Facebook, YouTube and Twitter as well as its owned blog and community platform. Key sites include Mayo Clinic Connect, an online patient community, Mayo Clinic News Network, and Sharing Mayo Clinic, a patient stories blog.

Prior to joining Mayo Clinic in 2000, Lee spent more than a decade in political and government communications at the local, state and federal level. He was elected to Mayo Clinic’s Voting Staff in 2016. In 2018 he received VitalSmarts certification as a trainer in the Getting Things Done (GTD) methodology for stress-free productivity.

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S2E31: Ep 31 Allergies Part Two | Anaphylaxis and Fighting Food

In 1901, an experiment when horribly wrong when Doctors attempted to induce tolerance in to a group of dogs by repeated injections of poison. The results were reproducible. Furthermore, the substance did not even need to be poisonous. In 1902, the reaction was called Anaphylaxis.

In the 1920s, a spate of Scientists and Doctors self-experimentation led to a range of discoveries about food allergies and reactions. Injecting skin, injecting nasal turbinates, and injection volunteers (including children) helped us to understand the different types of reactions the gastrointestinal tract can have to different foods allergens.

Join us as we discuss Part Two to our Allergies Podcast with Dr Daman Langguth and learn our current understanding of Anaphylaxis and food allergies.

This podcast is eligible for 1 RACGP CPD point – self reporting.

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S2E30: Ep 30 Allergies Part One | Friendly Fire

Our immune system provides the means for us to live in a world full of pathogens.However, sometimes it gets it wrong and we can find ourselves debilitated because of our own immune system.Allergies and hypersensitivies fall into this category, with symptoms ranging from the mildly irritating, to the life-threatening anaphylaxis.

Our knowledge of these ailments come from a variety of observational and experimental studies.

In the late 1800’s and early 1900’s, they did not understand the immune system nor allergies. Terms used to describe these diseases (that we know today as allergies) were Summer colds, Summer flu, Hay-asthma, and Hay-fever.The causes were unknown, the treatment ranged from experimental to dangerous and the Scientists often used themselves as the study subjects/volunteers. However, it took some clever minds and quite a bit of courage (not to mention a lot of dogs and other experimental animals) to gather the understanding of these conditions that we have today.

Our special guest isDr Daman LangguthHead of Immunology Department Sullivan Nicolaides Pathology (SNP), Chair of SNP Partners, Member of Executive Advisory Committee, Chair of the Data Request Committee.

Daman has particular expertise in the investigation of auto-immune disease, allergy, and immune deficiency and has special interests in idiopathic inflammatory myositis, vasculitis, IgG4-related systemic disease and e-Health.

SNP’s Immunology Departmentis the largest laboratory of its kind in Australia.

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S2E29: CST Cervical Screening | A smear in time (saves lives)

In 1952, George Papanicolaou with the National Cancer Institute embarked on the first ever cervical screening trial.The results were remarkable and the first demonstration of the power of screening an asymptomatic population.

However, the path to this point took decades of perseverance and self-belief.This feat changed the course of medicine and can be attributed to two people: George and Mary Papanicolaou.

Cervical screening is one of the most effective screening programs ever initiated.

Combined with the recent advancements of HPV molecular testing and the HPV vaccine, Cervical cancer is now relatively uncommon and has an excellent prognosis.

SPECIAL GUEST

Dr Cos Fusco
Doctor of Health Science, Master of Medical Science (Pathology)
Fellow of the International Academy of Cytology
CT(ASC) Australian Society of Cytology

Currently Supervising Cytologist Clinpath Pathology

Additionally, Dr Fusco is a current committee member of the RCPAQAP Cytopathology advisory committee 2019-2023 and Scientific coordinator (SA) for The IMPACT National HPV study.

He started his cytology training in 1986 at the then Gribbles Pathology. He worked in Cytology and Histology at Gribbles, IMVS, Clinpath and Adelaide Pathology Partners. In 2006, Dr Fusco started the Cytology laboratory at Adelaide Pathology Partners at the invitation of Dr Fergus Whitehead, and continued with this role post merger with Clinpath Pathology.

His Doctoral Thesis was based on HPV HR DNA testing, HPV vaccination and molecular biomarkers and the potential impacts, on the Australian cervical screening program. Cervical cancer and HPV related cancers are an interest and a focus for research. He has a strong interest and involvement in Endobronchial Ultrasound FNA (EBUS FNA) collection for lung cancer staging and diagnosis.

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