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The World Health Organisation designated Tuesday the 24^th of February 2020 as World Tuberculosis Day.

Today, TB remains the world’s deadliest infectious killer, claiming many lives on a daily basis.

As global citizens, we can do our part by educating ourselves about the condition, in order to stop the discrimination and stigmatization encountered by many TB patients, and also as healthcare professionals, in the management of TB.

Here’s a quiz for you. Let’s meet our patient now, shall we? (more…)

Ola Falade

Ola is a medical student at The Royal College of Surgeons Ireland (RCSI).

Happy International Women’s Day (IWD)! 🙂

The theme for this year is #EachForEqual

IWD (March 8th) is a time set out not only to celebrate the achievements of women across the globe but also to put the spotlight on gender inequality and how it affects not just women but the economy at large. (more…)

Dr Wendy Evans-Uhegbu

Dr. Wendy Evans-Uhegbu is a graduate of The Royal College of Surgeons in Ireland, with experience in Connected Health, Medical Technology, Clinical Research, Medical Education, Medical Communications, and Web Design/Development. She is a part of the Medics Abroad team with the role of Chief Communications Officer. She is also a Medical Writer at 3D4 Medical and runs a Medical Communications and Children’s books company (ODR Integrated Services/ ODR Books).  She is the author of the newly published children’s book series “The Things Around Me”.

www.odrintegrated.com

Rare Disease Day is celebrated annually in order to raise awareness and recognition of rare diseases, and the impact they have on the lives of people with such conditions in order to improve access to diagnosis, treatment, health and social care to those affected. It is estimated that there are 300 million people globally living with one or more of the 6000 known rare diseases today.

In order to celebrate the day which is celebrated tomorrow (29^th February 2020), here is a quiz to test your knowledge on some of them.

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What system of the body does cleidocranial dysplasia affect the development of?

Science Direct

Nervous system

Gastrointestinal system

Skeletal system

Lymphatic system

Correct! Wrong!

Correct! Cleidocranial dysplasia is a rare skeletal disease of autosomal dominant nature that affects the development of bones and teeth. Patients may present with a broad forehead, midface hypoplasia, and significant dental anomalies. (UpToDate)

Continue >>

What disease is consistent with expansion of the cytosine-adenine-guanine trinucleotide in the HTT gene, and is characterised by dementia, chorea, and psychiatric illness?

Family Doctor

Huntington disease

Hirschsprung disease

Hereditary Haemorrhagic Telangiectasia

Hansen’s disease

Correct! Wrong!

That’s right! According to UpToDate, a meta-analysis showed that the world prevalence of the condition in 2012 was 2.7 per 100,000, with a higher prevalence in Europe, North America and Australia.

Continue >>

A chronic, progressive course of phenotypic features such as hirsutism, organomegaly and the presence of coarse facial features, along with urinary excretion of GAG fragments are classical features of which of the following?

Health Europa

Mucopolysaccharidoses

Lipid storage disease

Glycogen storage diseases

Acquired partial lipodystrophy

Correct! Wrong!

Correct! MPSs are a family of inherited lysosomal storage disorders that result in the build-up of partially degraded GAG, resulting in dysfunction and clinical abnormalities. Laboratory studies will show urinary excretion of GAG fragments and leukocyte inclusion bodies.

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An 69 year old Caucasian male is currently being treated for a condition with rituximab and chemotherapy. Previously performed laboratory studies showed significant anaemia with monoclonal IgM gammopathy, and a BM biopsy displayed infiltration of small lymphocytes of plasma cell differentiation. What condition is he most likely being treated for?

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Waldenström Macroglobulinemia

Multiple myeloma

Non-Hodgkin’s Lymphoma

Acute Myeloid Leukemia

Correct! Wrong!

Correct! Waldenström Macroglobulinemia is a rare disorder of excess IgM protein production with a mean incidence of approximately three per million people. Diagnosis tends to occur around the age of 70, and is more common in Caucasians than other ethnic groups. Multiple myeloma is differentiated from WM usually due to the presence of hypercalcemia and renal insufficiency, with bone lytic lesions. Also, IgG and IgA are more commonly produced in MM, unlike WM where IgM is the monoclonal immunoglobulin.

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A two year old baby girl is brought to her primary physician by her mother with dysmorphic facial features consisting of frontal bossing, prominent eyes and small, low set ears, and areas of thickened skin that developed shortly after birth. On closer inspection, patchy alopecia and shiny skin with diffuse patterned atrophic and sclerotic patches across her abdomen and back were appreciated. What condition does this child most likely have?

Techexplorists

Congenital viral infection

Werner syndrome

Hutchinson-Gilford Progeria syndrome

Erythema Toxicum Neonatorum

Correct! Wrong!

That’s right! The diagnosis of HGPS is determined by the presence of clinical features: failure to thrive in first year of life, characteristic facial appearance, alopecia and prominent scalp veins, and sclerotic skin changes. Identification can also be achieved by genetic testing of the causative variant in the LMNA gene. The Progeria Research Foundation estimates that the prevalence of the condition globally is 1 in 20 million people (5).

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This disease is caused by prions, which induce abnormal brain tissue building resulting in slowing of mental processes, frontal release signs and cerebellar type dysarthria in late disease. It results in unicentric and round plaques with radiating spicules particularly in the cerebellum, which are also periodic acid-Schiff (PAS) positive. What disease do you think this is?

Leonard Norkin Virology Site

Gerstmann-Sträussler-Scheinker Syndrome

Subarachnoid haemorrhage

Herpes simplex encephalitis

Kuru

Correct! Wrong!

Correct! Kuru is a CNS disease that was endemic in Papua New Guinea and was believed to be transmitted from person to person by ritual cannibalism in the Fore tribes, in particular by eating the brains of an infected individual. Although the disease is 100% lethal, it is close to none-existent due to cannibalism being outlawed.

Continue >>

How much do you know about rare diseases?

Tough right? But how did you get on?

Share your Results:

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Ola Falade

Ola is a medical student at The Royal College of Surgeons Ireland (RCSI).

My name is Tenisha Anne Thomas and I am a 4^th year medical student from RCSI-UCD Malaysia Campus. My elective placement took place at Malindi Subcounty Hospital, Kenya last year. (more…)

Tenisha Anne Thomas

www.rcsiucd.edu.my/

I’ve often heard some of my colleagues say that they did volunteer work before starting medical school as it appeared to be an ‘unofficial’ requirement for many medical school applications. (more…)

Ola Falade

Ola is a medical student at The Royal College of Surgeons Ireland (RCSI).

As an international student, living abroad can be relatively expensive and so learning ways to manage your situation is key to staying on top of things money-wise. You’re already paying a killin’ in the name of tuition and accommodation fees, so why not save on the other things you actually have full control over? (more…)

Dr Wendy Evans-Uhegbu

Dr. Wendy Evans-Uhegbu is a graduate of The Royal College of Surgeons in Ireland, with experience in Connected Health, Medical Technology, Clinical Research, Medical Education, Medical Communications, and Web Design/Development. She is a part of the Medics Abroad team with the role of Chief Communications Officer. She is also a Medical Writer at 3D4 Medical and runs a Medical Communications and Children’s books company (ODR Integrated Services/ ODR Books).  She is the author of the newly published children’s book series “The Things Around Me”.

www.odrintegrated.com

Happy New Year (again) everyone! No doubt most if not all of you are already back in college like me. Starting a new college term can be as refreshing as it is overwhelming but here are 7 proven ways to set you up for success in this new academic term. (more…)

Ola Falade

Ola is a medical student at The Royal College of Surgeons Ireland (RCSI).

Happy new year! and welcome to 2020 😀

Looking back, we can say 2019 was a good year for the blog. We published a good number of insightful, high-quality articles for you, all curated by delectable authors in the medical field and beyond.

Keep on reading to find out what articles were read the most last year and why. Don’t miss out! (more…)

Dr Wendy Evans-Uhegbu

Dr. Wendy Evans-Uhegbu is a graduate of The Royal College of Surgeons in Ireland, with experience in Connected Health, Medical Technology, Clinical Research, Medical Education, Medical Communications, and Web Design/Development. She is a part of the Medics Abroad team with the role of Chief Communications Officer. She is also a Medical Writer at 3D4 Medical and runs a Medical Communications and Children’s books company (ODR Integrated Services/ ODR Books).  She is the author of the newly published children’s book series “The Things Around Me”.

www.odrintegrated.com

As the year comes to an end, many of us will be looking forward to stuffing our faces with turkey, spending time with family and loved ones, or simply taking some time off work and college. What many people will be talking about soon enough are New Year Resolutions. (more…)

Ola Falade

Ola is a medical student at The Royal College of Surgeons Ireland (RCSI).

One thing I always looked forward to in medical school in Dublin was the Christmas breaks. It was always short and sweet and came with a vibe that was different from the summer and spring breaks. It had a “zero responsibility” (more…)

Dr Wendy Evans-Uhegbu

Dr. Wendy Evans-Uhegbu is a graduate of The Royal College of Surgeons in Ireland, with experience in Connected Health, Medical Technology, Clinical Research, Medical Education, Medical Communications, and Web Design/Development. She is a part of the Medics Abroad team with the role of Chief Communications Officer. She is also a Medical Writer at 3D4 Medical and runs a Medical Communications and Children’s books company (ODR Integrated Services/ ODR Books).  She is the author of the newly published children’s book series “The Things Around Me”.

www.odrintegrated.com