khalid m. taibah , mbbch, frcsc.aboto ... - king faisal prize · dr abdulah al oteichan dr khalid...
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Khalid M. Taibah , MBBch, FRCSc.ABOto.
Professor ,Alfaisal University, Collage of Medicine
Director of ENT Medical Center, Riyadh
Founder of Saudi Society For Hearing Impairment (Saudi Hi)
Former Head, Otolaryngology,Head &Neck surgery, KFSH&RC
PAST, PRESENT AND FUTUER OF OTORHINOLARYNGOLOG AND HEAD&NECK SURGERY
1-2 December 2018
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PAST, PRESENT AND FUTUER OF OTORHINOLARYNGOLOG AND HEAD&NECK SURGERY
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ANCIENT MEDICINE
EGYPTION 5000 ROMANGRECO - ROMAN INDIAN
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Pure air was implanted in the ear
EMPEDOCLLES ( c. 490-c.430)
(fire, air, earth and water),
Seeshell
Aristotle ( 384 B.C. to 322 B.C.)
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1-MEDICAL ETHEICS
2- HOSPITAL/ BIRIMISTAN
3-PHARMCY
4- WOMEN AND MEDICINE
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الزهراوىأبو القاسم
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1700 – 1800 - 1900
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Struycken ‘s instrument for Hearing 1950
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Otorhinolaryngologists :individual surgeons have subspecialised in:
1- Otology, cochlear implant surgery,
2- Otoneurosurgery and skull-base surgery,
3- Head and Neck surgery,
4- Laryngology and Phonosurgery,
5- Rhinology,
6- Facioplastic surgery
7- paediatric otorhinolaryngology
8- Sleep Medicine.
William House John J. Conley
William Montgomery Heinz Stemberger
Charles Bluestone Robin cotton
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100th Year Anniversary
Department of Otolaryngology, McGill University
2005
Dr. Jeremy with my
daughter, MaramNurse with my
son, Mahmoud
McGill University , Montreal, 1983-1987
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King Faisal Specialist Hospital &Research Centre
• Joined KFSH&RC 1988.
• Head and Neck oncology surgery.
• Paediatric and Adult Laryngeal reconstruction surgery.
• Otology and Neurotology.
• General Otorhinolarynglogy.
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Dr Abdulah AL Oteichan Dr Khalid Taibah Dr Mohamed Aboziad
Dr Zeyad Mahasin Dr Peter MacArthur Dr Nabeal Zaher
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KING FAISAL SPECIALIST HOSPITAL&RC
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Otology and Neurotology
• First Cochlear Implant Program in the Kingdom of Saudi Arabia started at KFSH&RC in 1993.
• National Program for Early Detection of congenital hearing loss at ( Saudi HI) 2001.
• First Bone Anchored Hearing Aid (BAHA) at KFSH&RC in 2006.
• Genetic study for Deaf Gene in Saudi Arabia population at KFSH&RC and
ENT Medical Centre 2009.
• Middle Ear Implant Partial and Total experience at ENT Medical Centre 2010.
• Future of Gene and stem cell therapy.
• Future Implantable devices for hearing and balance.
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:لفترةنتائج برنامج فحص السمع المبكر لألطفال حديثي الوالدة في ا
هـ30/12/1429هـ إلى 1/1/1429من -
الجمعية السعودية لإلعاقة السمعية
Saudi HI
Prof. Dr Seraj Zagzog Prof.Dr Khalid Taibah
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الجمعية السعودية لإلعاقة السمعية
Saudi HI
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:نتائج برنامج فحص السمع المبكر لألطفال حديثي الوالدة في الفترة
هـ30/12/1429هـ إلى 1/1/1429من -
:المقدمة*
-12إلى عمر علسمأثبتت الدراسات مدى أهمية برامج فحص السمع لألطفال حديثي الوالدة قبل خروجهم من المستشفى، فمن دون هذه البرامج قد يتأخر كشف ضعف ا.شهراً أو أكثر في بعض الحاالت36
الطبيعي ويترتب على في وقت متأخر تكون النتيجة تأخر ملحوظ في اللغة يصعب تحسينه إلى المستوى-لدى األطفال حديثي الوالدة-فعندما يتم اكتشاف ضعف السمع لديهم مبكراً حيث وهذا ليس بحال األطفال الذين يتم اكتشاف ضعف السمع, ذلك تأخرهم دراسيا ًكما سيعانون مستقبالًمن مشاكل تعليمية، ونفسية، وإجتماعية
.فنجدهم في مستوى لغوي ودراسي مساو ألقرانهم الذين ال يعانون من مشاكل سمعية, يحصلون على تدخل مبكر
:المستشفيات المشاركة في مدينة الرياض*
ممرضات متفرغات لبرنامج فحص السمع المبكر 4لديهم : مجمع الملك سعود الطبي-1
لديهم ممرضات متفرغات لبرنامج فحص السمع المبكر : مستشفى اليمامة-2
:إجراءات البرنامج*
نين أو كالهما في و في حال لم تنجح أحدى األذ, ينص برنامج فحص السمع المبكر لألطفال حديثي الوالدة على فحص كل طفل حديث الوالدة قبل خروجه من المستشفى-د أو متأخر أو في حال كان الطفل حديث الوالدة معرضاً لخطر إكتساب فقدان سمع متزاي-لثالث مرات متتالية يفصل بين كل فحص واآلخر شهر-الفحص
فل جذع الدماغ يتم تحويلهم لفحص أس-إلخ , سواء كان بسبب والدة مبكرة أو تناول أدوية تؤثر على السمع أو لدى عائلة الطفل تاريخ طبي في ضعف السمع(ABR )في فترة ال تتجاوز ثالثة أشهر من آخر فحص أولي.
. حيث يوجد أجهزة في كال المستشفيين, GSI AudioScreenerالجهاز المستخدم إلجراء الفحص األولي هو
وبناءاً عليه يجب على , ترددات في كل إذن5هيرتز وذلك بفحص 6000إلى 2000يمكن للفحص أن يكشف نقص السمع في أذن أو في أذنين في الترددات ما بين .الطفل حديث الوالدة أن ينجح في أربع من الخمس الترددات المفحوصة في كل أذن
.يليتم تسجيل معلومات األطفال المفحوصين ونتائج الفحص وعوامل الخطر في نموذج خاص ثم يتم إدخالها في قاعدة بيانات مخصصة على الحاسب اآل
:هـ 1429-12-30هـ إلى 1429-1-1اإلحصائيات من *
%(.3.89)منهم لم ينجحوا 396في مجمع الملك سعود الطبي، 4353في مستشفى اليمامة و 5821طفل حديث الوالدة، منهم 10174تم فحص -
،( 5821)عدد األطفال حديثي الوالدة الذي تم فحصهم في مستشفى اليمامة كان -
نجحن،2765)أنثى 2803و ( لم ينجحوا56نجحوا، و 2962)ذكر3018
(.لم ينجحن38و
،(4353)عدد األطفال حديثي الوالدة الذين تم فحصهم في مجمع الملك سعود الطبي كان -
(.لم ينجحن142نجحن، و 2038)أنثى 2180و ( لم ينجحوا160نجحوا، و 2013)ذكر 2173
في مستشفى اليمامة، 10165طفل حديث الوالدة، منهم ( 17559) هـ1429بلغ مجموع األطفال الذين تم فحصهم منذ بداية البرنامج وحتى نهاية شهر ذو الحجة لعام -%(.3.32)منهم لم ينجحوا 583في مجمع الملك سعود الطبي، 7394و
:مالحظة*
وكذلك فحص أسفل جذع OAEs))يقوم المختصون في عيادة السمعيات في مجمع الملك سعود الطبي بتوجيه أولياء أمور األطفال الذين لم يجتازوا الفحص األولي د الطبي حيث أن مجمع الملك سعو, لطفلهم وذلك من خالل شرائها من حسابهم الخاص( السماعات الطبية)إلى ضرورة استخدام المعينات السمعية (ABR)الدماغ
.س المجمع الطبيفي نف( لجنة أصدقاء المرضى)وذلك من خالل تحويلهم للجنة الشؤون اإلجتماعية , ال يوفر المعينات السمعية إال لمن ليس له القدرة على شرائها
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:هـ 1429-12-30هـ إلى 1429-1-1اإلحصائيات من
4353في مستشفى اليمامة و 5821طفل حديث الوالدة، منهم 10174تم فحص -
%(.3.89)منهم لم ينجحوا 396في مجمع الملك سعود الطبي،
نـجـح
لـم يـنـجـح0
500
1000
1500
2000
2500
3000
مستشفي اليمامة
)ذكور(
مستشفي اليمامة
)إناث(
مجمع الملك
سعود الطبي
)ذكور(
مجمع الملك
سعود الطبي
)إناث(
نـجـح
لـم يـنـجـح
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بلغ مجموع األطفال الذين تم فحصهم منذ بداية البرنامج وحتى نهاية شهر ذو الحجة
في مستشفى اليمامة، و 10165طفل حديث الوالدة، منهم ( 17559) هـ1429لعام
%(.3.32)منهم لم ينجحوا 583في مجمع الملك سعود الطبي، 7394
نـجـح
لـم يـنـجـح
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Advance Audiology Lab
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Conventional Hearing Aid
feedback
occlusion
distortion
Chronic ear disease
cosmetics
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Hearing Implants – Level of InterventionBAHA/Atract
Bone Bridge
Sophono
Hearing aids
MEIs
( partial /Total)
C.I.EAS
ABI / MB
1ST . . . . .
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Cochlear Implant At KFSH&RC
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Cochlear implant program At KFSH&RC
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Cochlear Implant Surgery
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Middle Ear Implant
Passive ( classical ossiculopasty and Stapes Surgery).
Active ( Powered Middle ear implant).
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Conductive Hearing Loss
Ossiculoplasty ( Passive)
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Active Implants
Esteem (Envoy)(Total implant)
Vibrant Sound Bridge ( VSB)Ototronix- Maxum
CARINA/ MET
Bone anchored HA
STRATIGY OF DIFFERENT IMPLANTABLE HEARING DEVICES
Ototronex
VSB
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Bone Anchored Hearing Aid (BAHA)
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Ponto Pro (Oticon Medical)BAHA
Cond.HL / Mix.HL /SSD Electromechanical (Bone Anchored Hearing
Aid)
BONEBRIDGE IMPLANT SOPHONO ALPH1 (M)
(Percutaneous)
(Transcutaneous)
The Baha® 4 Attract System
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Middle Ear Implants
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SOUND BRIDGE VIBROPLASTY (VSB)
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VibroplastyVibrant Sound Bridge (SVB)
Treatment of hearing loss via
vibratory stimulation in the middle ear.
SNHL Conductive & Mixed HL
Incus Vibroplasty Round Window Vibroplasty
PORP / TORP Vibroplasty
Oval Window / Stapes
Vibroplasty
Third window Vibroplasty
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Total Middle Ear Implant (Bionic Ear)
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How It Works
Envoy ( Esteem) total implant
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MET® Middle Ear Implant
The sound processor
captures sound, processes it
and transmits it to the implant
The implant sends it to the
actuator
The actuator converts the
signal to mechanic vibrations,
which stimulate the cochlea
via the ossicular chain or
round window
A
B
C
D
AB
CD
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MET® Middle Ear Implant System
Implant
Fixation System
Button® Audio Processor
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Gene of Deafness research
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Research group:
This work was funded and supported in part by:
Prince Salman Centre for Disability Research
(PSCDR #04-IN-0005-04-EP-1)
King Faisal Specialist Hospital (RAC#2040039)
King Abdulaziz City for Science and Technology
ENT Medical Center,Riyadh KF MH,JeddahKF Medical city,Riyadh
Genetic study in the Deaf Saudi Arabian population
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AcknowledgementsKFSH&RC ENT Medical Centre
Prof Dr Khalid Taibah Prof Dr Khalid Taibah
Dr Faiqa Imtiaz Asst. Prof. Dr Ahmed Khater
Dr Brian Meyer Mrs. Saher Al Dehaish
Dr Khushnooda Ramzan Dr Adel Al Adawy
Dr Mohammad Al-Owain Lolo Juma
Dr Khaild Tabbara
Dr Fowzan Al-Kuraya King Fahd General Hospital
Dr Amal Humaidan Dr Sameera Sogaty
Bashair Al-Mubarak Dr Abdulmonem Al-Shaikh
Dr S. Bamkhaimar
Ghada Bin-Khamis
Abeer Al-Mostafa
Rabab Allam King Fahad Medical City
Dr Ameen Softah
PSCDR Special Thanks
Dr Sultan Al-Sedairy Sheikh Nasser Al-Mutawa ( Donation)
Dr Heidi Al-Askary
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Although non-syndromic HD is clinically
homogeneous, genetically it is
heterogeneous.
It is estimated that >300 genes are involved
in hearing process.
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55
Outline of statistics in previous studies
in hereditary hearing loss that our
study is targeting
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56
Saudi Population is Ideal for
Disease-Gene Discovery
Consanguinity 52% Consanguinity rate
Mostly first cousin marriages
Large family size Average nuclear family size is 8-10
U.A.E.Oman
Gulf ofOman
ArabianG
ulf
Iran
Kuwait
Iraq
Jordan
Red Sea
Egypt
Sudan
Yemen
ArabianSea
RUWALLA
ENAZASHAMMAR
MUTAIR
HARB
Juhainah
OTAIBAH
Jahadila
GhamidBuqum
Zahran
Dawasir
SUBAI
SUHUL
Yam
QAHTAN
Quraish
ASIR
MURRA
Manasir
Ajman
Awazim
Qatar
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57
Affymetrix GeneChip® Human Mapping 250K/6.0
Microarrays to identify regions containing any
known-deafness causing genes that were
subsequently sequenced.
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58
Clinical and Experimental Stages in the
Hereditary Deafness Study
Step I
Sep 2
Step 3
538 samples taken so far
500 patients screened for mutations in CONNEXIN genes
DNA Extracted
ENT CLINIC
AUDIOLOGY CLINIC
SUPPORT SERVEICE
KFSH&RC ENT MEDICAL CENTER
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Work Flow at (KFSH&RC): Pre-PCR
DNA EXTRACTION
PRE-PCR SETUP
PCR
AMPLIFICATION
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Work Flow at (KFSH&RC): Post-PCR
GEL
VISUALIZATION &
DOCUMENTATION
SEQUENCE ANALYSIS
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Publications
Khushnooda Ramzan a,*, Faiqa Imtiaz a, Khalid Taibah b, Samir Alnufieec, Mohammed Akhtar d, Selwa A.F. Al-Hazzaa e, Mohammed Al-Owain
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.Khushnooda Ramzan a,*, Khalid Taibah b, Asma I. Tahir a, Nada Al-Tassan a, Amal Berhan a,Ahmed M. Khater b, Selwa Al-Hazzaa c, Mohammed
Al-Owain d,e, Faiqa Imtiaz a
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Gene therapy/ Molecu?
Genetic Map
Premarital Exam
National Program For Early Dedication Of Deafness
Mixed / Conductive HLSensory neural HL
Hearing Aid Stem cell ?
Rehab.
Cochlear Implant
Optical Cochlear Imp?
BSI/MBI/cortical ? Surgical option
Middle ear implant
Tube/Middle ear S.
Bone- AHA
Rehabilitation
Integration
Medical Treatment
Sign Language
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A race for 10 to 15 years awayCONCULSION:
Patient counselling !!!!!!
STEM CELL THERAPY GENE THERAPY
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Comparison of various strategies in inner ear drug delivery.
BLBbase–apex concentration gradient
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Kanzaki, S.; Saito, H.
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Biotechnology-based approaches of inner ear drug delivery
1-Gene therapy
Atoh 1 genes ,green fluorescent protein (GFP) , glial-derived neurotrophic factor (GDNF),
2- Stem cell therapy
embryonic stem cells,fetal dorsal root ganglion otocyst cells
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hair cell regeneration:
(1) direct of transdifferentiation from supporting cells (SCs) to new hair cells (HCs) (green
(2) proliferation of SCs and mitotic regeneration (red).Sho Kanzaki
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Gene therapy
• inject Atoh 1 genes into the cochlea to induce hair cell regeneration
• viral vectors include adenovirus, herpes virus, Sendai virus.
• adeno-associated virus vectors (AAV)s ,can pass the RWM without making a hole.
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Photomicrographs of whole-mounted guinea pig cochlea showing the distribution of GFP-fusion protein after injection of GFP-fused Sendai virus vector (GFP-SeV/DF) into the scala media
S. Karger AG
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Growing new Hair cellIn Guiana pigs (gene Math 1)
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Future Implant
• Robotics Cochlear Implant.
• Vestibular Implant.
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OSCILLOPSIA
Bilateral Vestibular functional loss
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VESTIBULAR SYSTEM IMPLANT
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Dr Sunil Narayan Dutt
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Dr Sunil Narayan Dutt
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THANKSKhalid M. Taibah , MBBch, FRCSc., ABOto.
Professor ,Alfaisal University, Medical Collage, Riyadh
Director of ENT Medical Center, Riyadh
Founder of Saudi Society For Hearing Impairment (Saudi Hi)
Former, Head Section Otolaryngology,H&N King Faisal Sp.Hosp. &RC
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84
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Empedocles, Greek philosopher, known for numbering the four basic elements
(fire, air, earth and water),
was the first to describe the cochlea.
He called the structure , the name of a seashell found in the Mediterranean region.
However, his discovery intrigued him more for the perfect and singular shape of that anatomical structure than its function or relation with hearing.
EMPEDOCLLES ( c. 490-c.430)
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Aristotle ( 384 B.C. to 322 B.C.)
Aristotle, one of the best-known Greek philosophers,
even without anatomical knowledge, created a theory on hearing.
He believed there was a resonating space within the inner ear, which vibrated in
response to sound.
Pure air was implanted in the ear as the person was born, and congenitally deaf people
did not have this air implanted there.
As time passes, people would lose this pure air, thus reducing hearing.
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أبو القاسم الزهراوى
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88
923 A.C.
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1700 - 1800
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1800 - 1900
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Burt D. La Force (1869-1947)
Tonsillectomies by Fahnestock, Mathieu and Brüning
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Early Electric laryngoscope ( Theodor Simon 1937 )
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KFSH&RC ENT Department
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CARINA MITCochlear co.
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Carina® Fully Implantable Middle
Ear Implant
The subcutaneous
microphone captures sound,
and sends it to the implant
The implant sends it to the
actuator
The actuator converts the
signal to mechanic vibrations,
which stimulate the cochlea
via the ossicular chain or
round window
B.
C
D
B
CD
A
A
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100th Year Anniversary
Department of Otolaryngology, McGill University
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100th Year Anniversary
Department of Otolaryngology, McGill University
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100th Year Anniversary
Department of Otolaryngology, McGill University
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100th Year Anniversary
Department of Otolaryngology, McGill University
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100th Year Anniversary
Department of Otolaryngology, McGill University
McGill UniversityOtolaryngology, Head & Neck Surgery
SAUDI GRADUATES1982-2005
1. Moheedin Mandura, Makkah
2. Khalid Taibah, Riyadh
3. Surayie Al Dousary, Riyadh
4. Khalid Al Noury, Jeddah
5. Essam Al Zimaiti, Jeddah
6. Saeed Al Ghamdi, Assir
7. Saleh Al Ghamdi, Dhahran
8. Khalid Al Ghamdi, Jeddah
9. S. Al Jedher, Dhahran
10. Ashraf Al Benayan, Jeddah
11. Saleh Al Dhahri, Riyadh
12. Nasser Al Faqeeh, Assir
13. Ahmad Al Ammar, Riyadh
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Disease CharacteristicsHereditary Hearing Loss:
Non-Syndromic or Syndromic
Worldwide rate for pre-lingual deafness is between
1-2/1000
Incidence is higher in Saudi Arabia (Prof. Zakzoug)
( 1.6%)
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108
Principal Aim
ESTABLISH THE ROLE OF CONNEXIN
GENES, GJB2 AND GJB6 (DFNB1) IN
THE AETIOLOGY OF NON-SYNDROMIC
HEREDITARY DEAFNESS IN SAUDI
PATIENTS
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110
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Khushnooda Ramzan a,*, Faiqa Imtiaz a, Khalid Taibah b, Samir Alnufiee c, Mohammed Akhtar d, Selwa A.F. Al-Hazzaa e, Mohammed Al-Owain c,f
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ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
Khushnooda Ramzan a,*, Khalid Taibah b, Asma I. Tahir a, Nada Al-Tassan a, Amal Berhan a,Ahmed M. Khater b, Selwa Al-Hazzaa c, Mohammed Al-Owain d,e, Faiqa Imtiaz a
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114
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Conclusion :
FOR Genetic study in the Saudi Arabian population :
Our results strongly indicate that DFNB1 only accounts for 3% of non-syndromic hearing loss in the Saudi Arabian population of ethnic ancestry.
The overall results of this study are highly suggestive that underlying molecular basis of autosomal recessive non-syndromic deafness in Saudi Arabia is very genetically heterogeneous.
In addition, we report that there does not seem to be any common or more prevalent loci, genes or mutations in patients with autosomal recessive non-syndromic hearing loss in patients of Saudi Arabian tribal origin.
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Photomicrographs of histological sections of guinea pig scala media
Hair cells and supporting cells from the organ of Corti in an inoculated ear.
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Photomicrographs of histological sections of guinea pig scala media
Sensory epithelial cells and fibrocytes of the scala tympani