Related Experiment Video
Updated: Dec 27, 2025
07:06
Endaural Endoscopic Atticoantrotomy Retrograde Mastoidectomy using a Constant Suction Bone-drilling Technique
Published on: May 23, 2021
4.3K
Otopathology in CHARGE syndrome
Jenny X Chen1, Anahita Nourmahnad1, Jennifer O'Malley1
1Department of Otolaryngology Harvard Medical School Boston Massachusetts.
Laryngoscope Investigative Otolaryngology
|March 5, 2020
Summary
CHARGE syndrome in an infant caused severe bilateral inner ear abnormalities. One cochlea had sufficient spiral ganglion neurons for potential cochlear implant benefit, while the other did not.
Area of Science:
- Otolaryngology
- Pediatric Genetics
- Neuroscience
Background:
- CHARGE syndrome is a complex genetic disorder with diverse congenital anomalies.
- Inner ear malformations are common in CHARGE syndrome, impacting hearing and balance.
- Understanding these malformations is crucial for audiological management and cochlear implant candidacy.
Purpose of the Study:
- To detail the postmortem temporal bone computed tomography (CT) and histopathologic findings in an infant with CHARGE syndrome.
- To evaluate the cochleovestibular structures and their implications for cochlear implant candidacy.
- To correlate imaging and histopathology findings of inner ear hypoplasia.
Main Methods:
- Postmortem temporal bone computed tomography (CT) scans were performed.
- Histopathologic examination of the temporal bones was conducted.
- Quantification of spiral ganglion neurons (SGNs) was performed on histologic sections.
Main Results:
- Bilateral cochleovestibular hypoplasia was observed, including absent or severely hypoplastic semicircular canals (SCCs).
- The right cochlea showed type IV cochlear hypoplasia with reduced SGNs (35% of normal), suggesting potential cochlear implant benefit.
- The left cochlea demonstrated type III cochlear hypoplasia with absent SGNs, precluding cochlear implant candidacy.
Conclusions:
- CHARGE syndrome can result in severe bilateral inner ear malformations affecting cochlear implant outcomes.
- Detailed imaging and histopathology are essential for assessing cochlear implant candidacy in affected individuals.
- The presence and density of spiral ganglion neurons are critical determinants for successful cochlear implantation.
Related Concept Videos
01:27Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
1.7K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
1.7K
01:33Pleiotropy
43.0K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.0K
01:03Olfactory Receptors: Location and Structure
11.0K
The process of olfaction, also known as the sense of smell, is a sophisticated chemical response system. The specialized sensory neurons that facilitate this process, known as olfactory receptor neurons, are situated in an upper segment of the nasal cavity, known as the olfactory epithelium. Olfactory sensory neurons are bipolar, with their dendrites extending from the epithelium's apex into the mucus that lines the nasal cavity. Airborne molecules, when inhaled, traverse the olfactory...
11.0K
01:22Lysosomal Hydrolases
4.4K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.4K
01:28Obsessive-Compulsive Disorder
424
Obsessive-compulsive disorder (OCD) is a mental health condition characterized by recurrent obsessions, compulsions, or both, which consume significant time and interfere with daily functioning. Obsessions involve persistent, intrusive, and unwanted thoughts, images, or urges that evoke anxiety. Common examples include irrational fears of contamination or harm. Compulsions are repetitive behaviors or mental acts performed to reduce the anxiety caused by obsessions. For instance, individuals...
424
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
299
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
299