Angelman Syndrome.
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This document discusses Angelman syndrome, a genetic disorder characterized by developmental delays, lack of speech, seizures, and happy demeanor. It causes problems with physical and mental development due to a missing gene or chromosome abnormality. Treatments include physical therapy, communication therapy, behavior therapy, and anti-seizure medication to help manage symptoms.
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The document provides information on the physiology of hearing. It discusses how sound waves are conducted through the ear to the inner ear, where they are transduced into neural signals. Key points include:
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- BAEPs evaluate the ear, auditory nerve, and brainstem pathways using electrodes on the scalp to record responses to click stimuli.
- Short-latency waves I-V arise from specific structures along the ascending auditory pathway from cochlear nerve to inferior colliculus.
- Stimulation is typically with clicks at 10-20 Hz through headphones, with masking of the contralateral ear. Recordings analyze responses over 10 ms.
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- Sound waves are collected by the pinna and focused through the external auditory canal to the tympanic membrane.
- Vibrations are transmitted through the ossicles to the oval window, matching impedances between air and fluid environments.
- In the cochlea, vibrations of the basilar membrane lead to stimulation of hair cells and transduction of sound into neural signals.
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Angelman syndrome presentation By Angel Pantoja
Angelman Syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, seizures, jerky movements, frequent laughter or smiling, and usually a happy attitude. It is caused by deletion or corruption of a gene on chromosome 15 inherited from the mother. There is no standard treatment but therapy exists to treat behavioral issues and new drugs help control neurological and movement symptoms, while research studies folic acid and betaine.
Angelman syndrome
This document provides information about Angelman Syndrome, a rare genetic disorder caused by defects on chromosome 15. It affects 1 in 15,000 people and causes developmental delays, seizures, lack of speech, and frequent smiling/laughter. The disorder results from errors in genes on the maternal chromosome. Researchers are working to find treatments, with some success curing AS in mice. Foundations like FAST and ASF provide support for families and fund research seeking a cure. The document concludes with one family's story of receiving an AS diagnosis for their son Joey and their determination to help find a cure.
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7. Audiometry Dr. Krishna Koirala
Pure tone audiometry is used to measure a patient's hearing threshold levels through air and bone conduction tests. This assessment provides information about the type and degree of hearing loss. Results are plotted on an audiogram to diagnose conditions like conductive, sensorineural, or mixed hearing loss. Additional tests like speech audiometry, impedance testing, and brainstem evoked response audiometry provide further objective data about hearing ability and can help distinguish between cochlear and retrocochlear pathologies. Together, these audiological evaluations create a comprehensive profile of a patient's hearing to inform treatment decisions.
Embryology of the ear
The document discusses the development of the ear. It begins with the formation of the otic placode which develops into the otic pit and then the otic vesicle. The otic vesicle then forms the endolymphatic duct and sac as well as the utricular and saccular portions. The cochlea also develops from the otic vesicle. The middle ear develops from the tubotympanic recess which forms the tympanic cavity and Eustachian tube. The auditory ossicles also develop in the tympanic cavity. The external ear develops from the first branchial groove which forms the external acoustic meatus. Congenital anomalies that can result include deafness and end
VEMP (PPT) Dr.dr.HR Yusa Herwanto, MKed(ORL-HNS), Sp.THTKL(K)
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Fetal brain usg 2
Error of Dorsal Induction
Results in defect of closure of neural tube which leads to various anomalies like anencephaly, encephalocoele, spinal dysraphism and chiari malformations.
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This document discusses the anatomy and physiology of speech production. It explains that speech requires respiration to provide air flow from the lungs, phonation in the larynx where the vocal cords vibrate, and articulation using the tongue, lips and palate to form specific sounds. The four main components covered are respiration, phonation, articulation, and resonance. Respiration provides the air flow, phonation vibrates the vocal cords to produce sound, articulation shapes the sounds, and resonance is influenced by the size of the vocal tract.
Pure tone audiometry
Pure tone audiometry is used to measure hearing thresholds using an audiometer. It generates pure tones of varying frequencies and intensities that are delivered to the patient's ears through headphones or bone conduction to determine the softest level they can hear at different frequencies. The results are plotted on an audiogram to identify the type and degree of any hearing loss. It is an important subjective test that provides frequency-specific information but relies on the patient's responses.
Long latency responses (Niraj)
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adhear
sound arc
baha
direct acoustic cochlear implant
carina
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percutaneous devices
sophono
Auditory brainstem response (ABR)
The document discusses auditory brainstem response (ABR) testing, which is used to evaluate hearing in newborns. ABR testing uses electrodes to measure electrical activity in the brainstem in response to auditory clicks or tones. It is an effective screening tool for detecting hearing loss, with a high sensitivity and specificity. ABR testing can identify abnormalities in the auditory nerve or brainstem that may indicate conditions like acoustic neuromas. It provides objective information about hearing thresholds and neural conduction in the auditory pathway.
Aphasia Presentation
Aphasia is an impairment of language ability caused by damage to the brain, typically from stroke or head injury. There are two main types of aphasia: fluent and non-fluent. Fluent aphasias involve relatively normal speech but impaired comprehension, while non-fluent aphasias make speech difficult and halting. Specific types include Wernicke's aphasia (impaired comprehension), Broca's aphasia (halting speech), and conduction aphasia (difficulty repeating words). Damage to different brain regions causes different aphasia types.
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HIS 120 Cochlear Microphonics and Hair Cells
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Anatomy of External Ear and Middle Ear
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Hope it will be helpful for you.
Regards,
Dr Diptiman Baliarsingh
+919438436775
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VEMP (PPT) Dr.dr.HR Yusa Herwanto, MKed(ORL-HNS), Sp.THTKL(K)
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Radiological Imaging in Head and Neck and relevant anatomy
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Angelman syndrome presentation By Angel Pantoja
Angelman Syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, seizures, jerky movements, frequent laughter or smiling, and usually a happy attitude. It is caused by deletion or corruption of a gene on chromosome 15 inherited from the mother. There is no standard treatment but therapy exists to treat behavioral issues and new drugs help control neurological and movement symptoms, while research studies folic acid and betaine.
Angelman syndrome
This document provides information about Angelman Syndrome, a rare genetic disorder caused by defects on chromosome 15. It affects 1 in 15,000 people and causes developmental delays, seizures, lack of speech, and frequent smiling/laughter. The disorder results from errors in genes on the maternal chromosome. Researchers are working to find treatments, with some success curing AS in mice. Foundations like FAST and ASF provide support for families and fund research seeking a cure. The document concludes with one family's story of receiving an AS diagnosis for their son Joey and their determination to help find a cure.
Angelman Syndrome: Kelsey Blackburn
Angelman syndrome is a genetic disorder characterized by developmental delay, neurological problems, and other symptoms like hyperactivity, seizures, sleep issues, frequent smiling and laughter, speech impairments, and balance problems. It is caused by absence of a gene inherited from the mother or inheritance of both copies of chromosome 15 from the father. While there is no cure, therapies can help manage symptoms. It is estimated about 1,000 cases occur annually in the US and Canada.
ANGELMAN SYNDROME
This case study describes a 7-year-old Hispanic female diagnosed with Angelman Syndrome. She was born with hypotonia and developmental delays. She was initially misdiagnosed with Prader-Willi Syndrome but was later correctly diagnosed with Angelman Syndrome after experiencing seizures at age 3. Angelman Syndrome is a genetic disorder caused by a deletion or mutation on chromosome 15. She exhibits many characteristics of the syndrome including severe intellectual and developmental disabilities, lack of speech, balance and coordination issues, and hyperactivity.
Angelman syndrome
The document summarizes information about the UBE3A gene, which encodes an ubiquitin protein ligase. Mutations in this gene can cause Angelman syndrome, a neurodevelopmental disorder characterized by developmental delays, lack of speech, inability to walk, and frequent smiling and laughter. The document provides details on the gene's location, sequence, transcripts, SNPs, expression, and provides links to relevant databases.
Angelman
Angelman Syndrome is a neurogenetic disorder characterized by delayed development, intellectual disability, impaired speech, movement problems, and seizures. It is caused by a deletion or mutation on chromosome 15 in 70% of cases. Symptoms include happy demeanor, laughter, hand-flapping, hyperactivity, and sleep issues. Treatment focuses on medication, therapy, and communication techniques due to significant speech limitations. The condition affects approximately 1 in 10,000 births.
Angelman syndrome assignment
Angelman syndrome is a neurogenetic disorder characterized by developmental delays, lack of speech, seizures, and a happy demeanor. It is caused by a genetic mutation or deletion on chromosome 15 that disrupts the UBE3A gene. The syndrome was first described in 1965 by British pediatrician Harry Angelman and affects an estimated 12,000 to 20,000 people worldwide. While there is no cure, treatment aims to manage symptoms through educational and behavioral therapies.
07-24-09 Angelman ATRI Presentation
Presented at the 2009 ASF Biennial Conference in Orlando, FL., the Angelman Syndrome Foundation announced the establishment of the Angelman Treatment and Research Institute (ATRI). Please visit www.angelman.org for more information.
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Tay-Sach's Disease is a rare genetic metabolic disorder caused by a deficiency of the enzyme hexosaminidase A, which results in a failure to process GM2 ganglioside that accumulates in the brain and other tissues. It was first described by Waren Tay and Bernard Sachs, who distinguished it from other neurological disorders. There are three types - infantile, juvenile, and adult-onset - with infantile being the most severe and typically resulting in death within the first few years of life. The disease is inherited in an autosomal recessive pattern and causes a progressive deterioration of nerve cells and mental/physical abilities due to harmful accumulation of gangliosides in brain cells over time. While there
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Tay – sachs disease
Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene that result in a deficiency of the enzyme hexosaminidase A. This prevents the breakdown of GM2 ganglioside, which accumulates toxically in neurons, especially in the brain and spinal cord. Early symptoms include declining development and muscle weakness in infants. Eventually, children experience blindness, deafness, paralysis and dementia, leading to death by age 5. It is inherited in an autosomal recessive pattern and affects Ashkenazi Jewish populations at higher rates.
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Tay sachs DISEASE
Tay-Sachs disease is a rare, fatal genetic disorder that is caused by the lack of an enzyme called hexosaminidase A. It primarily affects Ashkenazi Jewish populations and people of French-Canadian or Cajun heritage. The disease causes harmful ganglioside buildup in neurons which leads to progressive damage to the nervous system and loss of physical and mental abilities over time, ultimately resulting in death in childhood. There is currently no treatment or way to prevent the progression of Tay-Sachs disease.
Tay sachs disease
Tay-Sachs disease is a rare genetic disorder that causes fatty substances to build up in brain cells, leading to nerve cell damage and death. There are three main types - Classic Infantile, Juvenile, and Late Onset. Classic Infantile symptoms usually appear around 6 months of age and include slowed development and loss of skills. Juvenile symptoms begin in childhood and include slurred speech and muscle weakness. Late Onset symptoms may first appear in childhood or adulthood and include weakness and mental/mobility decline. Tay-Sachs is diagnosed through a blood or genetic test and managed through symptom relief but has no cure.
The biochemistry of tay sachs disease
Tay- Sachs disease is an autosomal recessive fatal genetic disorder, that progressively destroys nerve cells in the brain and spinal cord.
Tay-Sachs
La enfermedad de Tay-Sachs es un trastorno hereditario causado por un gen defectuoso que provoca una acumulación excesiva de lípidos en el cerebro y destruye las neuronas. Se caracteriza por una falta de la enzima hexosaminidasa A necesaria para descomponer gangliósidos en las células nerviosas. Puede presentarse en forma infantil entre los 6 meses y 2 años de edad, juvenil entre 2 y 10 años, o en la edad adulta después de los 30 años. No tiene cura y el tratamiento se enfoca en aliv
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