FM NOVEMBER 2018 ISSUE - digital edition

REGULATORY DIAGNOSTICS HEAD & NECK CANCER CASE REPORT
letters to the editor
COMBO-DRUGS
ON THEIR
WAY OUT?
MICRODELETION:
LOST IN
TRANSLATION
EXCITING FRONTIERS
KNOWING
ORAL CANCER
STAGING BY
DEPTH OF INVASION
Roll of ECG in
epilepsy diagnosis
₹ 250.00
VOL 5 | ISSUE 6
PAGES 100
OCTOBER 2018
FUTUREMEDICINEINDIA.COM
NON-INVASIVE PRENATAL
SCREENING ENTERS
THE UNBORN
HOW SHE
REGAINED
HER LOST TASTE
The Editor
We were pleased to read the
article titled “Heart rhythm
disorders mimicking epilepsy”
by Dr. Shivanee Shah in Vol.
5, Issue 5, bringing this issue
to the notice of the readers.
The article failed to mention
that these patients have the
“Long QT syndrome”. Such
families have an abnormality
in the ECG, which gives a clue
to the presence of the Long
QT syndrome. Prolongation
of QTc more than 440ms
(milli seconds) points to this
diagnosis. We have seen
more than 100 families of
this syndrome at our Institute
over a period of 7 years.
The patients present with
a history of sudden loss of
consciousness, truly a syncopy,
but often misdiagnosed as
epilepsy. These defects arise
due to defects in cardiac
channels that control the
rhythm of the heart. In cases
with rhythm disturbances of
the heart, ECG should always
be done in patients and the
parents. Commonly, Long
QT and Brugada syndromes
(BrS) show specific types of
abnormalities on the ECG.
They also have different
triggers. For example,
symptoms in patients with
LQT1 occur due to exercise/
stress, while in LQT2 patients
due to sudden noises/
emotions and patients with
LQT3 and BrS have symptoms
during sleep. Occasionally,
these patients may have a
normal QTc/ECG but still have
defect in the gene. The most
definite test for diagnosis in
these patients is to sequence
the channelopathy genes.
Of 100 patients we studied,
mutations were identified
in 45. This not only helps to
confirm the clinical diagnosis,
but aids in detecting
asymptomatic mutation
carriers among relatives by
cascade screening, counseling
for prenatal diagnosis, and
making effective treatment
plan. We carried out cascade
screening in 42 families, and
mutations were identified
in atleast one of the two
parents, most (95%) of whom
were asymptomatic. Of the
nineteen siblings screened,
sixteen were identified with
mutations (84%) of which
eleven were asymptomatic
(69%). Majority of mutations
identified were novel and
different than those reported
in the West. This was the first
molecular cohort study of
LQTS syndrome and Brugada
syndrome patients of Indian
origin. We have published
our results [Vyas B, et al.
Am J Med Genet A. 2016
Jun;170(6):1510-9; Vyas B, et
al. Indian Pacing Electrophysiol
J. 2016 Jan-Feb;16(1):8-18].
In conclusion, we would like
to emphasize that ECG should
be performed in all cases with
sudden loss of consciousness
before making the diagnosis
of epilepsy.
Bijal Vyas-Bhatia, Ratna Puri
and Ishwar Verma
Institute of Medical Genetics
and Genomics.
Sir Ganga Ram Hospital,
New Delhi
icverma@gmail.com
Very relevant
Sir
The cover-story and the
interview in the October
edition made the reader
really cognizant of the
relevant ideas, information
and existing chasms in the
field. The contents in general
provide a great informational
platform for medical students,
practitioners and basically any
science readers.
Arundhati
Bangalore
Exhilarating
Hi
Having read the previous
editions of Future Medicine,
I feel privileged to mention it
“exhilarating”. The magazine
seems to be a pioneer
project and gives a fresh
feeling to the readers with
well-explored themes. The
authors offer great insight
into issues related to the
urgent medical needs and
ongoing developments, with
well outlined case-study and
interviews. My best wishes to
the future endeavors of the
magazine.
Dr Preeti Kamal
Ghaziabad
Cheap robotic surgery
Dear Sir
I would like to comment
on Prof. Liselotte Mettler’s
optimism that India is about
to make the big revolution
in cheaper robotic surgery.
It’s really wonderful to hear
this from one of the highly
reputed experts in the field of
gynaecology.
Congrats on your initiative
of Future Medicine, intended
on converging relevant
advancements and chasms in
the medical field. Experienced
a reader friendly approach,
and appreciate the well
written, precise quality of
the contents put forward.
Expecting more from the
magazine in its subsequent
edition. Best wishes.
Sunesh Waghmare
Pune
Excellent work
Hello
It is a great magazine
with well framed contents
including exclusive interview
with renowned doctors
and latest news on the
progressing fields of medical
science. The magazine shows
its excellence in being up-todate
promoting the readers to
be aware of the on goings in
the field. Excellent work.
Jina Bodhisatwa
Raipur