What are the underlying genetic factors that increase the risk of meningitis in children, leading to hearing loss?4 answersGenetic factors that increase the risk of meningitis in children, leading to hearing loss, include variations in pathogen recognition genes such as Toll-like receptor 2 (TLR2). Other risk factors for hearing loss in children with meningitis include computed tomographic scan evidence of increased intracranial pressure, male sex, low glucose levels in the cerebrospinal fluid, Streptococcus pneumoniae as the causative organism, and the presence of nuchal rigidity. Additionally, exposure to ototoxic medications such as gentamicin, vancomycin, and furosemide, as well as physiological risk factors, independently increase the likelihood of hearing loss in neonatal care. Furthermore, genetic variations in multiple pathogen recognition and immune response genes, including TLR4 and TLR9, are associated with clinical features that determine severity and outcome of childhood bacterial meningitis, particularly hearing loss. These findings highlight the importance of early diagnosis, treatment, and close monitoring of hearing in children with meningitis to prevent complications and promote proper speech development.
What diseases do ALDH1A2 mutations cause?5 answersALDH1A2 mutations cause a severe multiple congenital anomaly syndrome involving pulmonary hypoplasia, respiratory failure, cardiovascular defects, diaphragmatic abnormalities, and musculoskeletal malformations. These mutations result in reduced retinoic acid (RA) production, which is essential for embryonic development of the diaphragm and cardiovascular system. The clinical features observed in patients with ALDH1A2 mutations overlap with those seen in Fryns syndrome, syndromic microphthalmia 9, and DiGeorge syndrome. ALDH1A2 mutations are associated with a recognizable malformation syndrome characterized by tetralogy of Fallot, absent thymus, diaphragmatic eventration, talipes equinovarus, upper airway anomalies, hypocalcemia, and dysmorphic features. These findings highlight the crucial role of ALDH1A2 in human diaphragm and cardiovascular development and provide further evidence for an autosomal recessive ALDH1A2-deficient malformation syndrome.
What is the cause of age related hearing loss?5 answersAge-related hearing loss (ARHL) is caused by a combination of factors. One leading hypothesis is a decrease in ear metabolism, but this is not the sole cause. Studies have shown that auditory organ metabolism decreases with age, but there is no correlation between metabolic rate and age-related auditory decline. Another factor is the loss of hair cells in the inner ear, which is well correlated with the degree of hearing loss. Additionally, there is evidence to suggest that ARHL is associated with the accumulation of β-amyloid and tau, which are hallmarks of Alzheimer's disease. Furthermore, potassium ion channel dysfunction in various parts of the auditory system, including outer hair cells and the stria vascularis, may contribute to ARHL. Finally, mutations in the tip-link protein cadherin-23 can also lead to age-related hearing loss.
What genes are only described for profound hearing loss?5 answersMutations in the CIB2 gene have been associated with profound hearing loss. Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are also a common cause of profound hearing loss.
What causes hearing loss in older people?5 answersAge-related hearing loss in older people is caused by a combination of factors including exposure to noise and ototoxic chemicals, smoking, diet, physical inactivity, and the presence of chronic lifestyle diseases. Peripheral changes in the ear and degeneration in the auditory neural pathway also contribute to age-related hearing loss. Damage to multiple structures in the auditory system, such as the cochlea and neural pathways, can result in impaired hearing. Additionally, age-related hearing loss is associated with cognitive decline, dementia, falls, depression, and social isolation. Treatment options for age-related hearing loss include hearing amplification devices, cochlear implants, and other implantable devices. Preventive measures, such as addressing modifiable lifestyle risk factors and reducing oxidative stress, may help in preventing or delaying age-related hearing loss.
What are some diseases that can lead to hearing loss?5 answersHearing loss can occur due to various reasons, including genetic, congenital, acquired, and infectious diseases. Infectious diseases account for approximately 25% of all cases of profound hearing loss, with one-fifth of these cases being congenital. Some leading causes of hearing loss globally include illness, middle-ear disease, injury, age, overuse of certain medications, and exposure to damaging noise levels. The prevalence of hearing loss increases with age, and by age 65, one out of three individuals will suffer from hearing impairment sufficient to interfere with speech understanding. Hearing loss can be classified into three types: sensorineural, conductive, and mixed. Sensorineural hearing loss involves the inner ear, cochlea, or auditory nerve, while conductive hearing loss occurs when the outer or middle ear structures fail to optimally capture, collect, or transmit sound. Mixed hearing loss is a combination of conductive and sensorineural hearing loss. Some specific diseases that can lead to hearing loss include neoplastic changes, inflammatory diseases, otosclerosis, and labyrinthitis.