Help For Hearing Loss Sufferers
Assess history of chronic otitis media, brain infection, use of ototoxic drugs, rubella or other intrauterine infections (viral), congenital defects of ear or nose, presence of deafness in family members, hypoxemia and increased bilirubin levels in low-birth weight infants. possible risks for conductive or sensorineural hearing loss. Alert parents to behavioral cues indicating hearing impairment. acuity and or loss and type of hearing loss. Promotes identification of hearing loss for correction before development is affected. Encourage parents to notify school nurse and teacher of degree of hearing loss and methods of communications used by child.
LEEK sometimes formed part of quite complicated recipes. The Physicians of Myddfai, for example, conjoined the juice of leeks, goats' gall and honey, mixed in three equal parts, and then put warm in the ears and nostrils. An early leechdom for an ear salve required the doctor to pound sinfull, which is a Sedum of some kind, latherwort (probably Soapwort), and leek, put in a glass with vinegar and wring through a cloth and then drip it into the ear (Cockayne). A prescription for deafness of the 15th century requires one to take the juice of leaves of a beech-tree, and good vinegar, even portions, and put thereto powder of quick-lime and then clear it through a cloth and of this, when it is cleansed, put hot into the sick ear (Dawson). CAMOMILE flowers were used in an old recipe for deafness. The patient was to take camomile and seethe it in a pot, and put it in the ear that is deaf, and wash the ear and so do for four days or five, and he shall be whole (Dawson). BAY leaves, or rather...
Hearing impairments may be defined as damage to an individual's hearing that results in hearing that is deficient but functional. This term has been used to describe a wide range of hearing loss. Impairments in hearing do not affect an individual's intellect. However, hearing loss does negatively affect the academic achievement of these students in that instruction generally depends upon verbal instruction. Consequently, students with hearing impairments may be delayed as compared to their peers. Hearing impairments have also been noted to affect a child's social and emotional development. The social use of language as well as conversational skills of children with a hearing impairment are often deficient. An audiologist and or speech-language pathologist typically conduct the assessment. With respect to treatment, the school psychologist may provide social skills training that focuses on conversational skills, turn taking, initiation of activities, and decision making.
The homoplasmic C1494T mutation was recently identified in a large Chinese family with AID and maternal inheritance.1-14-1 Twenty of 39 matrilineal relatives, who are supposed to carry the mutation, exhibited hearing loss. Clinical data have shown that the treatment with amino-glycosides can induce or worsen deafness in matrilineal relatives. The mutation occurs at a position where the A at position 1555 can make a pair with the mutant base (Fig. 1D). Additional data indicated that the cell lines derived from carriers showed a lower rate of total oxygen consumption and a significant increase in doubling time with the high concentration of aminoglycosides. Nuclear background probably plays a role in the deafness phe-notype and AID with the C1494T mutation. 14
FIGURE 2.10 Examples of myosin motor proteins found in the mammalian nervous system. Myosin heavy chains contain the motor domain, whereas the light chains serve to regulate motor function. Myosin II was the first molecular motor characterized biochemically from skeletal muscle and brain. Biochemical and genetic approaches have now defined 11 classes of myosin, many of which can be found in brain. Myosin II is a classic two-headed myosin that forms thick filaments in nonmuscle cells. Myosin I motors have single motor domains, but may interact with actin microfilaments or membranes. Myosin V motors were initially identified as a mouse mutation that affected coat color and produced seizures. Myosin V has multiple binding sites for calmodulin that act as light chains. Mutations in other classes of myosin have been linked to deafness. Other myosins, including myosins I, II, and V, have been detected in growth cones as well as mature neurons. The specific roles of these various myosins in...
The widespread application of monoclonal antibody and nucleic acid probe technologies has expanded our understanding of the distribution of virus in an infected host and has revealed many cells that become infected with CMV but do not become enlarged or show outward cytopathology. Infection, particularly in an immunocompromised host, is more widespread and involves a greater spectrum of organs than originally anticipated based on histopathology. Virus cytopathology is limited to the salivary glands and kidney tubules, where ductal epithelium is infected and is responsible for the production of virus in saliva and urine. The disseminated infection that occurs in an immunocompromised host results in virus cytopathology in a wide range of tissues in addition to those that are the target of disease, including blood cells, intestines, liver, lungs, pancreas, ovaries, skin and bone. While the brain is the primary site of severe cytomegalic inclusion disease, and a range of mild to severe...
In the endemic areas of Africa 60 of children with BL present with jaw tumors. These jaw tumors are common in younger BL patients whereas older children are more likely to present with abdominal tumors similar to those found in the sporadic form of the disease. Whereas bone marrow involvement is frequently found in patients with sporadic BL, it is rarely a feature of endemic BL. Over half of NPC cases present with a cervical mass resulting from lymphoid spread of the primary tumor from its common site of origin in the lateral nasopharynx (fossa of Rosenmuller). Common symptoms resulting from the location of the primary NPC tumor include nasal obstruction and bleeding as well as those due to malfunction of the eustachian tube such as ear blockage, otitis media and conductive hearing loss. Lymphomas in patients with immunodeficiency can present at a number of different anatomic sites including the mediastinum, lungs, central nervous system and abdomen. The site of presentation and rate...
Describe hearing loss (e.g., do things sound muffled, or is there no sound in the affected ear ). hearing loss is temporary and will resolve with treatment. Provide information about OM and answer any questions. Describe action of drug that will resolve OM and restore hearing. Complications of OM may include conductive hearing loss or a perforated tympanic membrane.
Another common functional genetic disorder is hearing loss, which can result from a defect in any one of more than fifty different genes. One gene, connexin 26, may be responsible for a large portion of inherited hearing loss. Some forms of congenital hearing loss may be due to prenatal exposure to infectious agents such as rubella. Genetic screening or screening for hearing loss at birth may be the most important test for hearing impairment yet to be developed, as early recognition and treatment can lead to dramatic improvements in hearing and, consequently, in the development of language in early childhood.
Zoster oticus (geniculate zoster, zoster auris, Ramsay-Hunt syndrome, Hunt syndrome) Meniere disease, Bell palsy, cer-brovascular accident or abscess of the ear beginning with otalgia and herpetiform vesicles on the external ear canal, with or without features of facial paralysis, resulting from facial nerve involvement, auditory symptoms (e.g., deafness), and vestibular symptoms
Other Drugs Adjunct corticosteroid therapy has been reported to decrease the inflammatory process and decrease incidence of hearing loss but is controversial. Vaccinations exist for meningococcal, pneumococcal, and hemophilic meningitis, and the prophylaxis for persons exposed to meningococcal meningitis is rifampin.
Blood transfusions have been a common therapy for severe thalassemia, but transfusions do not cure the disease, and frequent transfusions can cause iron overload, an illness caused by excessively high levels of iron. A drug, called an iron chelator, may be given to bind with the excess iron. Iron chelators can produce additional side effects, such as hearing loss and reduced growth.
Ipsilateral and contralateral superior olivary nuclei. Axons from cells in the superior olive travel along with other sensory fibers within the lateral lemniscus to reach the inferior colliculus. Collicular fibers synapse in the medial geniculate nucleus of the thalamus. Geniculate fibers represent the final projection to the primary auditory cortex located along the superior lip of the temporal lobe. Auditory fibers are represented bilaterally within the central pathway because of partial decussation of projections at several of the relay points within the brain stem. Thus, central auditory lesions rarely cause deafness in only one ear.
Advise the patient to quit smoking, avoid excess alcohol intake, maintain adequate nutrition, and avoid exposure to crowds and others with upper respiratory infections. Teach appropriate preventive measures. Be sure the patient understands all medications, including the dosage, route, action, and adverse effects. Instruct the patient to abstain from alcohol while on INH, and refer for eye examination after starting, then every month while taking, ethambutol. Teach the patient to recognize symptoms such as fever, difficulty breathing, hearing loss, and chest pain that should be reported to healthcare personnel. Discuss the patient's living condition and the number of people in the household. Give the patient a list of referrals if she or he is homeless or economically at risk.
Brummett has pointed out the synergistic interaction between loop diuretics and aminoglycosides. This combination often produces permanent deafness, especially in patients with renal failure. The acute loss of hearing may occur within 30 min to 2 hr after intravenous administration of diuretics, in a patient on aminoglycosides. This interaction may be specific of loop diuretics and does not hold for other diuretics such as mannitol, hydrochlorothiazide, or mercurials. There is also a synergistic toxicity when loop diuretics are given with cis-platinum. This is especially important because loop diuretics are recommended to produce a diuresis to prevent cis-platinum nephrotoxicity.
Cochlear implants stimulate spinal ganglion cells of the auditory nerves, bypassing nonfunctional hair cells to restore limited hearing in some types of deafness. The cochlear implant system really consists of an implanted stimulator connected to an electrode array inserted in the cochlea and an external speech processor that codes the speech into stimulation patterns that can be translated back into sounds by the brain. The external speech processor also powers the implant via an inductive energy transfer link. Cochlear implants are now common and provide substantial benefits to many profoundly deafened children and adults. Benefits vary by person and range from increased perception of environmental sounds to the ability to use a telephone.
Rubella retinitis is the most common ocular manifestation of congenital rubella, with the appearance of the fundus taking several forms 11 . Salt-and-pepper mottling of the RPE may be localized only in the posterior pole, or it may extend farther into the peripheral retina (Fig. 3.28). Both eyes are affected in 80 of the patients. These alterations of the RPE may occur alone or may be associated with other ocular abnormalities (e.g., cataracts and microphthalmos) and systemic abnormalities, including deafness and congenital heart disease. Pathologically, the salt-and-pepper changes in the fundus are caused by altered pigmentation and some atrophy of the RPE 12 .
The T1095C mutation was found in two Italian families. 19,32 In one family, the proband had Parkinson's disease, neuropathy, and a history of AID. 32 The second family with matrilineal inheritance of hearing loss included two maternal relatives of the proband who had histories of AID. 19 More data are needed to draw a firm conclusion about the role of this mutation in AID.
Residual ataxia is common. Lassa fever is also a pediatric disease affecting all ages of children. The disease appears to be even more difficult to diagnose by clinical criteria in children than in adults because its manifestations are so general. In very young babies marked edema may be seen, associated with very severe disease. In older children the disease may manifest as a primary diarrheal disease or as pneumonia or simply as an unexplained prolonged fever. The case fatality in children is 12-14 . Pharyngitis, proteinuria and retrosternal chest pain have a predictive value for Lassa fever in febrile hospitalized patients of 81 and a specificity of 89 . Likewise, a triad of pharyngitis, retrosternal chest pain and proteinuria (in a febrile patient) correctly predicted Lassa fever 80 of the time (in an endemic area). Both triads have sensitivities of 50 for detecting cases of Lassa fever. Significant complications of Lassa fever include a two- to...
The Cryopyrinopathies Familial Cold Autoinflammatory Syndrome Muckle Wells Syndrome and Neonatal Onset Multisystem
Episodic fever, rash, and arthralgia, precipitated by exposure to cold temperature. The rash resembles urticaria, but biopsies show a neutrophilic infiltrate and the absence of mast cells (Hoffman et al. 2001b). Muckle-Wells syndrome (MWS) is a more severe illness with more prominent joint involvement, bilateral progressive hearing loss, and increased risk of systemic amyloidosis. Febrile episodes are often longer than those with FCAS, and there is usually no association with cold temperature. Finally, neonatal onset multisystem inflammatory disease (NOMID also called chronic infantile neurological, cutaneous, and articular syndrome, CINCA Prieur et al. 1987 ) is potentially the most serious cryopyrinopathy, with continuous symptoms fluctuating in intensity. Many patients with NOMID CINCA develop a bilateral deforming arthropathy due to overgrowth of the epiphyses of the long bones (Prieur and Griscelli 1981 Hassink and Goldsmith 1983 Hashkes and Lovell 1997 Prieur 2001). Besides...
Most patients recover completely, but approximately 12 experience complications that include postherpetic neuralgia (PHN), uveitis, motor deficits, infection, and systemic involvement such as meningoencephalitis, pneumonia, deafness, or widespread dissemination. In some patients, the scars are permanent.
Mutations in a-TTP result in a familial disease, ataxia with vitamin E deficiency (AVED), associated with low levels of a-tocopherol in plasma and neurodegenerative symptoms closely resembling those of Friedreich's ataxia 42,43 . A point mutation in four independent ataxia patients at position 101 of the a-TTP gene resulted, in three of them, in the development of retinitis pigmentosa subsequent to the onset of ataxia. Administration of vitamin E appeared to halt the progression of visual and neurological symptoms 42 . Gene analysis in another patient identified two point mutations in exon 1 of a-TTP gene, one missense mutation and a mutation upstream of the initiation codon in the 5'-untranslated region (Kozak sequence). The latter mutation is the first one identified in the translation regulatory region and is able to decreases the level of a-TTP protein expression. The clinical features include uncommon urinary disturbance, deafness and retinitis pigmentosa. Supplemental therapy...
There are several categories of conditions or disorders defined in the IDEA that are deemed appropriate for special education services. These categories are autism, deaf-blind, deaf, hearing impairment, mental retardation, multiple disabilities, orthopedic impairment, other health impairment, serious emotional disturbance, specific learning disability, speech or language impairment, traumatic brain injury, and visual impairment including blindness. The states have established specific criteria for inclusion in special education. These criteria can vary widely between states. The entire IDEA document is available online at
Rickettsia rickettsii This is transmitted via contact with the wood tick, the dog tick, or the Lone Star tick, with an overall incidence of 0.2-0.5 cases per 100000 population. The usual neurological features consist of headache, neck stiffness, altered sensorium, and convulsions. Other neurological abnormalities include ataxia, aphasia, neural hearing loss, and papilledema. The neuro-pathological findings consist of cerebral edema, perivascular and meningeal lymphocytic infiltration, and extensive necrotizing vasculitis
Tubes, particularly in infants and young children, because the amount and stiffness of their cartilage is less than that of older children and adults. Eustachian tube obstruction leads to negative middle ear pressure and a sterile MEE. Drainage of the effusion is inhibited by impaired mucociliary action and sustained negative pressure. Contamination of the middle ear may occur from nasopharyngeal secretions and lead to infection. Because infants and young children have a shorter eustachian tube than older children, it makes them more susceptible to reflux of nasopharyngeal secretions into the middle ear and development of infection. Other predisposing factors include upper respiratory infections, allergies, Down syndrome, bottle propping during feedings, daycare attendance, and parental smoking. Complications include persistent AOM, tympanic membrane perforation, mastoiditis, hearing loss for several months, speech delay, and cerebral thrombophlebitis.
Neuroblastoma, the most common extra-cranial tumor of childhood, remains a challenge among pediatric tumors, despite the astonishing advances seen in the outcome for children with leukemia over the past 25 years. Fifty percent of children with neuroblastoma present with high risk disease at diagnosis, with 5-year survival below 40 , even with intensive multimodal therapy. In addition, late effects of treatment are particularly important in this tumor, where the peak age incidence is at 2 years. Thus, children with this tumor will be exposed to chemotherapy and radiotherapy at a critical period of growth and development, such that survivors will be very susceptible to late effects of treatment, such as orthopedic deformities, growth delay, cardiac and renal dysfunction, hearing loss and second malignancies. Rapid testing of promising therapies and of means to diminish acute and long-term side effects in a randomized fashion has been difficult, due to the relative rarity of this tumor,...
7.10.1 Deafness Although over a hundred different forms of genetic deafness are known, well over half are due to a G)A substitution at codon 70 (G70A) in the CBJ2 gene coding for connexin 26 (Cx26) (chromosome 13 (13p11-12)). This leads to a premature 'stop' codon and a defective connexin protein being expressed in the stria vascularis, basement membrane, limbus and spiral prominence of the cochlea (see Figure 13.25). It is believed that a defective Cx26 prevents the proper recycling of K+ from synapses at the bases of the hair cells back into the K+-rich endolymph via the stria vascularis This disrupts the physiology of the organ of Corti and thus causes deafness. We shall see, in Chapter 11, that mutation of a gene encoding a K+ channel (MinK) has a similar effect. It has been suggested that the prevalence of a mutated Cx26 gene in the population is due to marriage of similarly challenged men and women. As with deafness there are many genetic causes of cataract. One cause, however,...
2 Will a reduction in volume provided by conformal radiotherapy techniques (including proton radiation)13 be used to improve control of the tumor bed and simultaneously decrease the morbidity of normal tissue to decrease late hearing loss without jeopardizing tumor control to enable on increase in the use of radiosensitizing chemotherapy that will offer better tumor control without increasing hearing loss and other adverse outcomes from local normal tissue effects
Randomized trials in adults with good-risk testicular teratoma have shown that cisplatin-based chemotherapy provides a small but significant relapse-free advantage. Some of these studies have again used a smaller dose of carboplatin than the UKCCSG. It would seem appropriate that the European and American groups consider a randomized trial to assess the role of carbo-platin as there is no doubt about the significant hearing loss seen with cisplatin, particularly in this very young age group. There is also the possibility that cisplatin exacerbates bleomycin lung toxicity. The SIOP group has recently reached a consensus of risk grouping in MGCT which could be applied in such a study. For the poorer-risk groups, such as those with extra-gonadal primaries and high aFP level, the addition of IVAd (ifosfamide, vincristine, doxorubicin) to PVB requires evaluation.
There are hundreds of medical conditions due to autosomal dominant alleles, most of them very rare. They include neurodegenerative disorders such as Huntington's disease, a variety of deafness syndromes, and metabolic disorders such as familial hypercholesterolemia (affecting blood cholesterol levels) and variegate porphyria (affecting the oxygen-carrying porphyrin molecule). Table 1 lists some other examples.
Sclerae, joint laxity, dentinogenesis imperfecta, easy bruising, and hearing loss. OI represents extreme variation in severity from lethal perinatal to barely detectable. These clinical features, along with radiological and genetic criteria, were used to separate four major clinical types of OI. 1 The patients affected with the mildest (type I) OI have blue sclerae, osteopenia, slight growth retardation or normal height, and premature deafness dentinogenesis imperfecta is less common. Fractures are not commonly observed at birth, but begin with am-bulation and decrease following puberty. Type II is the lethal perinatal form infants exhibit multiple intra-uterine fractures of the ribs and long bones. They have a relatively large and soft cranium, short limbs, and a narrow thoracic cavity death usually results from pulmonary insufficiency. Type III is the progressively deforming form with multiple fractures, short stature, and severe dentinogenesis imperfecta. Children with type III may...
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited muscular dystrophy affecting about 1 in 20,000 individuals. The weakness is not restricted to areas named in the disease name weakness may occur in hip girdle, ankle dorsiflexors, and occasionally oropharynx. Extramuscular manifestations of this slowly progressing myopathy may include hearing loss and retinal vasculopathy. All patients with a confirmed diagnosis of FSHD carry a chromosomal rearrangement within the subtelomeric region of chromosome 4q (4q35). This subtelomeric region is composed mainly of a polymorphic repeat structure consisting of 3.3-kb repeated elements (D4Z4). The number of repeat units varies from 10 to more than 100 in the population, and, in patients with FSHD, an allele of 1 to 10 residual units is observed because of the deletion of an integral number of these units.
Auditory disorders are classified as conductive, sensorineural or mixed conductive-sensorineural hearing loss. Causes include damage to the inner ear structures or the auditory nerve from congenital defects, infection, ototoxic drugs, long-term excessive exposure to noises (sensorineural) or middle ear infection such as otitis media (conductive).
Intelligence is not affected and there are no associated systemic abnormalities. The condition is always bilateral and symmetrical. Blepharophimosis is also seen as a part of other syndromes including Michels syndrome (blepharophimosis plus cleft lip and-palate, and mental retardation), Carnevale syndrome (blepharophimosis plus abnormal ears, strabismus, and umbilical diastasis), OSA syndrome (blepharophimosis plus humeroradial synostosis and spinal abnormalities), van den Ende-Gupta syndrome (blepharophimosis plus arachnodactyly and congenital contractures), the Schwartz-Jampel syndrome (blepharophimosis plus ptosis and blepharospasm), and Ohdo syndrome (blepharophimosis plus mental retardation, dental hypoplasia, and partial deafness).
That the TR 1 isoform of the receptor is the one which promotes, via T3, the vital development of the central nervous system in the fetus, the neonate and the child in combination with the a1 receptor 39, 40 . It is of interest that the deafness that exists in the TRp 1 knockout rat also exists in endemic cretinism in some patients with resistance to thyroid hormones due to lack of the TR 1 gene 41 .
These defects may be stillborn or delivered alive at term. AG is characterized by fixation of the joints in flexion (most frequently) or extension. The birth of some arthro-grypotic animals is associated with dystocia, necessitating embryotomy or cesarean section to save the dam. Young born with HE may show blindness, nystagmus, deafness, dullness, slow suckling, paralysis, and lack ofcoordination. They may survive for several months if hand-reared but often die from misadventure. In cattle herds with animals at different stages of pregnancy, there will be a succession of defects, initially with cases of AG and later calves with HE. In sheep and goats, due to the shorter period of gestation and narrower range at which the fetus is susceptible, affected progeny born may show one or more of the defects of AG and HE concurrently
In SIOPEL-1 the small group of children with initially completely resected tumors had good outcome when given doxorubicin alone as adjuvant therapy. The SIOPEL-2 pilot study has suggested that cisplatin alone as pre-surgical therapy achieves tumor shrinkage and rates of operability comparable to cisplatin doxoru-bicin (PLADO). The unpublished randomized study SIOPEL-3 compares these two regimens in children with tumors that are localized to a single lobe, even if large. It is a matter of opinion whether the potential late sequelae of cisplatin alone, i.e. hearing loss and nephrotoxicity, are necessarily more desirable than a comparatively non-cardiotoxic low dose of doxoru-bicin. This, when given as a single agent can be infused over a 24-hour period with no concern about acute morbidity such as oral mucositis. Future studies in this good-prognosis group could compare the parent compound with either of the less toxic analogs - carboplatin and one of the liposomal anthracyclines.
Guidelines for the management of neonatal jaundice are derived from the belief that bilirubin levels greater than 340 mmol l in term infants can cause deafness and kernicterus. This is based on data established when ker-nicterus due to severe rhesus disease was common but it has not been demonstrated that 340 mmol l is the critical level for nervous system injury in other conditions. It is generally believed that in preterm infants critical levels are lower than this, especially if the infants have intercurrent illness, while at term higher concentrations may be tolerated without neurological deficit provided the infant does not have additional pathology such as infection or acido-sis. Many authorities now advocate a more relaxed view of neonatal jaundice in a well, term infant, but haemolytic jaundice and jaundice in the sick or preterm infant should always be treated aggressively. Failure to control bilirubin levels by phototherapy should lead to urgent exchange transfusion.
Originally described in the early 1980s, CHARGE is the acronym for coloboma, heart disease, atresia choanae, retarded growth and retarded development and or central nervous system anomalies, genital hypoplasia, and ear anomalies and or deafness. CHARGE is clinically diagnosed, so the frequency and certainty will depend on who is doing the evaluation. With the establishment of specific etiology or etiologies for CHARGE, the diagnostic criteria will likely improve. Most cases of CHARGE syndrome appear to be new mutations the loci for many has been mapped to chromosome 8q12. The incidence is about 1 10,000 births, but high infantile mortality rates likely obscure the true incidence of this syndrome.
Figure 1 Mapofthe human mitochondrial genome. D-loop control region. Letters around the outside perimeter indicate cognate amino acids of the tRNA genes. Other gene symbols are defined in the text. Arrows followed by names of continents, and associated letters on the inside of the circle, indicate the position of polymorphisms that define region-specific mtDNA lineages (i.e. haplogroups). Arrows associated with abbreviations followed by numbers, around the outside of the circle, indicate representative pathogenic mutations, the number being the nucleotide position of the mutation. DEAF deafness MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes LHON Leber's hereditary optic neuropathy ADPD Alzheimer's and Parkinson's disease MERRF myoclonic epilepsy and ragged red fibre disease NARP neurogenic muscle weakness, ataxia, and retinitis pigmentosum LDYS LHON plus dystonia PC prostate cancer. (http www.mitomap.org). Figure 1 Mapofthe human mitochondrial genome....
The syndrome of familial profound congenital hearing loss associated with large, multinodular goiter was first described by Vauhan Pendred 1 in 1896 (OMIM 274600). From its initial description until 1996, a large number of articles were written describing novel cases and suggesting possible pathophysiologic mechanisms for the syndrome. However, all of these were based on speculation, since the precise cause of the syndrome remained unknown for 100 years. Then, in 1996, using linkage analysis, 2 groups independently identified the genetic locus responsible for the syndrome 2, 3 . The discovery of the precise gene mutated in Pendred syndrome, only 1 year later, opened a new phase in the history of the syndrome 4 . Pendred syndrome is caused by loss-of-function mutations in the novel protein called pendrin, which is encoded by the gene SLC26A4 (PDS). Pendrin functions as an anion transporter and is expressed in the thyroid, the inner ear, the kidney and the placenta. The precise...
The hallmark of Pendred syndrome is the combination of sensorineural deafness and goiter in the presence of a positive perchlorate discharge test. The clinical manifestations of this syndrome can be highly variable between affected families and even within the same family 5 . The true incidence of the syndrome is not known, and depends in part on whether it is defined on a purely clinical basis, or on a genetic basis. The incidence of congenital deafness has been reported to be between 1 1,000 and 1 2,000, and 1-8 of patients with congenital hearing loss are thought to have Pendred syndrome 6, 7 . This suggests that the incidence of Pendred syndrome may range from 1 12,500 to 1 200,000. However, this estimate is based on data collected long before the genetic etiology of Pendred syndrome was known. New studies are needed to determine what percentage of patients with congenital hearing loss have mutations in the PDS gene, and what percentage of these have complete syndrome (see below)....
Otitis media (OM) is an inflammation of the middle ear that can occur in one or both ears. It is the most common disease of childhood, after respiratory tract infections. OM is often caused by a buildup of infectious fluid within the eustachian tube, a slender canal in the inner ear. Symptoms of acute OM can include complaints of pain or tugging at the ear (in nonverbal children), a pus-like ear discharge, irritability, fever, poor appetite, and short-term hearing loss. OM with effusion indicates the presence of a watery or mucuslike fluid in the ear without symptoms of infection (i.e., complaints of pain, irritability, etc.). Instead, it is characterized by mild to moderate hearing loss and possible reports of an itchy feeling deep within the ear OM with effusion is common in children recovering from acute OM.
Complications from recurrent or long-term OM may lead to damage of the middle ear structures irreversible hearing loss and, in rare instances, meningitis, encephalitis, and hydrocephalus. Children who sustain intermittent hearing loss as a result of OM may develop difficulty discriminating sounds, which can lead to auditory processing and learning deficits. Children who develop permanent hearing loss can be at further risk for developing speech and language impairments, attention difficulties, and learning difficulties. The school psychologist can be instrumental in identifying children with OM who are at risk for developing auditory processing and or learning problems, and facilitating their assessment. Specific classroom management strategies to use include minimizing background noise, preferential seating (e.g., not by the pencil sharpener), and making speech louder and clearer. Specific instructional management strategies to use include increasing children's attention to language...
More than 100 different PDS (SLC26A4) mutations have been reported in patients with Pendred syndrome and nonsyndromic deafness (see below) (fig. 4). Most of these are seen in only a single family, although 4 specific mutations (E384G, L236P, T416P, and 1001 + 1G) are commonly seen, and are estimated to be responsible for 50-60 of the Pendred syndrome cases in the Caucasian population 26, 27 . Haplotype analysis suggests that these are founder mutations in the Northern European Caucasian population and not mutation hot spots. Another founder mutation, a single base deletion causing a frame shift and truncated protein (1220delt), was identified in a large Bedouin tribe from Northern Israel with more than 35 patients diagnosed with Pendred syndrome.
The clinical picture is characterized by a recurrence of fever and development of headache, lethargy, irritability, confusion, and seizures in up to 56 . The great majority of patients return to normal within 48- 72 hours, but about 30 progress to persistent coma. Approximately 15 of patients with measles encephalitis die, and a further 25 develop severe brain damage and neurological deficits, such as mental retardation, seizures, deafness, hemiplegia, and severe behavioral disorders
Signs of meningitis in newborn infants are non-specific with a bulging fontanelle opisthotonos and seizures occur late in the disease. Meningitis usually presents as septicaemia and can be complicated by cerebral oedema, cerebral infarction, brain abscess or deafness. Common causal organisms are GBS and E. coli. Listeria monocytogenes is a rare cause of perinatal infection in the United Kingdom.
Gypsies use an infusion of the dried flowers to allay convulsions and to lower the temperature (Vesey-Fitzgerald). That is why cowslip wine or tea is taken for measles and other fevers (Hampshire FWI), and herbalists prescribe the root decoction or extract to treat ailments like whooping cough, bronchitis and pneumonia (Schauenberg & Paris). The strangest usage must be this Irish one for deafness Take the cowslip, roots, blossoms and leaves, clean them
Ramsay-Hunt syndrome The classic description includes the following triad of findings (1) zoster lesions on the pinna (see Photo 16), meatus, and canal or tympanic membrane of one ear, (2) severe ear pain, and (3) an ipsilateral facial nerve palsy (see Photo 17). Vestibular symptoms and sensorineural hearing loss may also occur. The facial paralysis is usually complete and the recovery rate is low. Taste and lacrimation may also be affected.
Most congenital CMV infections are asymptomatic, although many carriers develop sensorineural hearing loss and intellectual handicaps, and less often seizures, hypotonia, and spasticity. In severe meningoencephalitis, lethargy and coma occur Acquired CMV infections in immunocompromised adults, particularly AIDS patients, are very common. CMV is an important cause of encephalitis (progressive dementia, headache, focal or diffuse weakness, and seizures, attributed to CMV vasculitis or foci of demyelination), myelitis, and polyradiculitis (beginning insidiously as a cauda equina syndrome with distal weakness, paresthesias, incontinence, and sacral sensory loss)
Orkney, particularly to prevent a boil coming to a head, in other words to allay inflammation and swelling (Leask). That poultice was used in Scotland for gumboils (Gibson. 1959). Warty eruptions were dealt with by using bunches of camomile, according to an old leechdom (Cockayne), and the flowers were used in an old treatment for deafness, the recipe telling the patient to take camomile and seethe it in a pot, and put it in the ear that is deaf, and wash the ear and so do for four days or five, and he shall be whole (Dawson. 1934). Something similar used to be the custom in Wiltshire domestic medicine for earache. People made a flannel bag, and filled it with camomile heads. This was warmed by the fire and held against the ear (Wiltshire). One of the most engaging of all these prescriptions was the way Wiltshire mothers were advised to deal with fractious children - the flowers, picked when the sun was on them, dried in the sun and kept in a close stoppered jar for use when needed. A...
Besides the medicinal uses that stem from its magical, protective qualities, houseleek has been used for more rational purposes. Herbalists still use it, for example, for eye- and ear-drops (Conway), the latter an old Cotswold remedy - squeezing houseleek juice, sometimes mixed with cream, into the ears to cure earache has been known for a very long time (Briggs. 1974 Helias). The medieval Welsh medical text known as the Physicians of Myddfai prescribed it for deafness. Take ram's urine, the oil of eels, the house leek, and the juice of traveller's joy Clematis vitalba , and a boiled egg. Let him mix and drop into the ear little by little, and it will cure him . Bathing sore eyes with the juice is well known in Ireland (P Logan. 1972), and in Wessex (Rogers). Gerard knew all about this, for he recommended the juice to cool the inflammation of the eyes, beng dropped therein, and the herb bruised and layd upon them . Sore lips could be treated with it, too there is a Lincolnshire cure...
Huge extent and intricacy of cerebral membrane systems. Biochemical structure lipids, proteins, carbohydrates. Lipids phospholipids - amphipathic character - bilayers and micelles - artificial bilayers and liposomes - dynamism - lipid packing and membrane fluidity. Sphingosine and its derivatives. Glycolipids cerebrosides and gangliosides - Tay-Sachs disease. Cholesterol and its function in 'stiffening' membranes. Membrane fluidity - microdomains (rafts) - caveolae. Membrane asymmetry - E- and P-faces - glycolipids and cell-cell recognition. Proteins the 'fluid-mosaic' concept of membrane structure - orientation of proteins in lipid bilayer - 'inside-out' character of lipophilic domains - glycophorin - mobility of proteins in membranes. Synthesis of membranes - the Xenopus rod outer segment disc - axoplasmic flow carries newly synthesised membrane to appropriate destination. Myelin and its synthesis - MS - differences between central and peripheral myelin - Schwann cells and...
Patients with perennial or seasonal rhinoconjunctivitis may have injected conjunctivae (visible small blood vessels), erythematous conjunctivae (reddened whites of eyes), puffy eyelids, and erythematous, oedematous nasal mucosa (the lining of the nose appearing swollen and red). Studies investigating any link between food allergy and otitis media with effusion (sometimes termed glue ear - long-standing fluid in the middle ear resulting in, albeit temporary, conductive hearing loss) have been poorly conducted.18 To date, there is no good evidence linking this condition with food allergy.
Peripheral pulmonary artery stenosis, butterfly-like vertebral arch defect, posterior embryotoxon, and a peculiar facies. 1 However, minor features such as renal abnormalities, skeletal defect, high-pitched voice, and mental and growth retardation were also described. In addition, some patients occasionally present with clinical features including other arterial stenosis, small bowel atresia, deafness, and diabetes. 2
Medicinal uses for beech are few, in fact the only recipe involving the leaves dates from the 15th century, and is for deafness take the juice of leaves of a beech-tree, and good vinegar, even portions, and put thereto powder of quick-lime and then clear it through a cloth and of this, when it is cleansed, put hot into the sick ear (Dawson). More attention was paid to the water that collected in hollow parts of the tree. It cures, according to Evelyn, the most obsinate tetters, scabs, and scurfs, in man or beast, fomenting the part with it , and it also prevents baldness, according to a report from Devonshire (Devonshire Association. Transactions. vol 103 1971 p103).
Certain birth defects and health conditions are more common in individuals with Down syndrome. The most common birth defect is a congenital heart defect, affecting 40 percent to 50 percent of newborns with the condition. Although many can be repaired with surgery, congenital heart defects remain the major cause of early death among affected persons. Individuals with Down syndrome have an increased chance of experiencing hearing loss, vision problems, and thyroid disease, as well as an increased susceptibility to infections. Because of such concerns, specific guidelines for the health care of individuals with Down syndrome have been developed.
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