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Hearing Aids Inside Out

Hearing Aids Inside Out

Have you recently experienced hearing loss? Most probably you need hearing aids, but don't know much about them. To learn everything you need to know about hearing aids, read the eBook, Hearing Aids Inside Out. The book comprises 113 pages of excellent content utterly free of technical jargon, written in simple language, and in a flowing style that can easily be read and understood by all.

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Breaking The Sound Barriers

Living with a deaf child is one of the hardest things that you will ever deal with in your life; the barriers to their learning and potential happiness can seem like you will never cross them. However, it is easier than you thing to learn how to communicate with your deaf child on a level that you both are able to understand. This ebook guide is designed to teach you how to truly communicate with your child so that it minimizes frustration for both of you, and allows you child to learn at a much higher level than almost anyone would have believed. You will also hear the success stories of deaf children that have gone on to achieve amazing success in their lives. Having a deaf child is a blessing, not a curse. This guide will show you how best to love and care for your child!

Breaking The Sound Barriers Overview


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Nonorganic Hearing Loss

Occasionally patients will present with a complaint of hearing loss though, in fact, there is no loss. These individuals fall into two broad categories those who consciously fake a loss (malingerers) and those who have psychological disturbances, usually of the hysterical type. The malingerers are often seeking compensation for some sort of injury, or have some other agenda whereby they will gain from their loss, such as a disability determination. The individuals with hysterical loss tend to be in the younger age group. These patients may be suffering from emotional stress and are not usually consciously shamming, although some secondary gain may be involved, as with other hysterical disorders. An office evaluation with simple clinical intuition and tuning fork testing may reveal inconsistencies with either type of patient, although the malingerers may be quite clever and convincing.

Conductive vs Sensorineural Hearing Loss

There are two major categories of hearing loss that are key concepts for the clinician to understand. The first, conductive hearing loss, is due to an outer or middle ear problem a problem conducting sound waves through the ear canal to the eardrum and then through the middle ear apparatus toward the inner ear. Sensorineural hearing loss is due to a malfunction somewhere in the inner ear, from the cochlea inward through the auditory nerve. This is often termed nerve deafness and with this type of loss even one's own voice does not sound loud. Conductive vs. Sensorineural Hearing Loss 5 evaluation can differentiate between the two this will be discussed in the next chapter. Audiometric testing can do the same, more precisely. Figure 1.2 shows an audiogram of a hypothetical patient with a conductive loss in the right ear and a sensorineural loss in the left ear. This is a representation of a complete, and somewhat complex, pure tone audiogram. If you can understand it, with the help of...

Noise Induced Hearing Loss

Noise Damage Audiogram

How much of the hearing loss of aging is due to noise exposure Actually, this is a difficult question that often arises in litigation, when an aging patient is seeking compensation for his hearing loss from years of industrial noise exposure. Quite certainly, the two types of loss coexist in many individuals and one aggravates the other. However, characteristic audio-metric differences are noted in the pure forms. The early loss from noise damage shows up as a dip at 4 KHz most often, with recovery at 8 KHz. Sometimes the loss is greater at 3 KHz or 6 KHz but, in any case, a V-shaped audiometric notch is present, and this deepens as damage increases (Fig. 7.2). Fig. 7.2 Audiogram showing examples of progression of noise-induced hearing loss, right ear. Fig. 7.2 Audiogram showing examples of progression of noise-induced hearing loss, right ear.


Deafness means any hearing loss, from mild and temporary to complete and irreversible. Conductive deafness results from any condition that interferes with the transmission of vibrations to the inner ear. Such conditions include a damaged eardrum, otitis media, blockage of the auditory canal, and otosclerosis.32 Otosclerosis is the fusion of auditory ossicles to each other or fusion of the stapes to the oval window, which prevents the bones from vibrating freely. Sensorineural (nerve) deafness results from the death of hair cells or any of the nervous elements concerned with hearing. It is a common occupational disease of factory and construction workers, musicians, and other people. Deafness leads some people to develop delusions of being talked about, disparaged or cheated. Beethoven said his deafness drove him nearly to suicide.

Congenital Ossicular Abnormalities

A child may have a conductive hearing loss present from birth, with no middle ear effusion or retraction to explain it. Juvenile otosclerosis is possible, but this is extremely rare. The only other possibility is a congenital malformation of the middle ear ossicles. Some middle ear malformations readily stand out, with distorted TM landmarks or accompany- The most common deformity seen with patients that have a normal drum and landmarks is ankylosis of the malleus or incus heads in the epitympanum. Here, there is fusion of either ossicular head to surrounding bone in the attic, with otherwise normal anatomy. Other malformations may be more extensive and even involve absence of one or more ossicles. These are more apt to show distortions of landmarks when one examines the TM. An audiogram, tympanogram, and CTscan will help diagnose the hearing loss and image the deformities. Associated abnormalities in the location of the facial nerve may be present. Surgical reconstruction of these...

Retraction of the Tympanic Membrane

This and the next few sections discuss changes in the middle ear that result from obstruction of the eustachian tube. Retraction of the drum is the earliest visible change. Studies have shown that if a eustachian tube is experimentally obstructed, visible retraction of the TM will occur in a matter of 20 minutes. The affected individual usually complains of a sense of blockage or pressure, even though the symptoms are caused by a vacuum. Popping and crackling sounds may be heard if the middle ear aerates intermittently. Conductive hearing loss, with autophony, occurs. The patient might say, I feel as though I'm talking in a barrel or under water. The loss

Atelectasis and Retraction Pockets

A successful inflation by Valsalva, if possible, will produce a dramatic return of a retraction pocket to a normal position, and any hearing loss will usually improve. In fact, frequent performance of gentle inflation may result in good clinical improvement over the long run. Sniffing should be discouraged. Another treatment, aside from medical decongestive measures, is the insertion of a tube. In this case, the best option is a T tube, or any other type with a large inner flange. Grommet tubes, which have a smaller diameter and flanges, will extrude too readily. Insertion of the T tube is a surgically tricky process here because the TM is often so thin and flattened out, it has the workablility of wet tissue paper.

Congenital and Hereditary Disorders

Sensorineural hearing losses present at birth are congenital disorders. Some, but not all, of them, are hereditary, i.e., genetic, and the others are complications of pregnancy. Most are due to cochlear defects. There may be destruction of the vascular and membranous regions supporting the organ of Corti (Scheibe deformity) or loss of the neural elements, from the hair cells inward toward cranial nerve VIII (Mondini deformity). It is important to discover congenital hearing loss as early as possible to promote rehabilitation and fit a hearing aid, if indicated. Speech awareness, the sooner the better, is critical for development of the auditory centers of the brain. An analogy with the eye exists if a child with strabismus is not patched to train the nondominant eye, the visual cortex of the brain for that side does not develop. The auditory cortex is similar. Congenital hearing losses are often suspected before 1 year of age. Unfortunately, many are not discovered until much later...

Adhesive Otitis Media

Inactive adhesive otitis may exist in a quiescent form for years with no damage and little, if any, hearing loss. Insertion of a long-lasting ventilating tube in the anterior drum may stabilize the situation. Unfortunately however, there is a tendency for infection and localized osteitis of the incus and stapes head to occur, with bone erosion and granulation tissue formation. This is now termed active adhesive otitis, and it often presents with weeping granulation tissue in the posterosuperior TM and distortion of landmarks here. With this, the patient complains of drainage that is sometimes bloody. There may be a red aural polyp (a large ball of granulation tissue) filling most of the posterior canal (Fig. 5.10). Once again, the microbes involved are the chronic ones, such as Pseudomonas.

Ear Effusions in the Young Special Considerations


Infants and toddlers are afflicted most often with middle ear effusions, and they are not about to tell us they have conductive hearing loss or autoph-ony. If their ears hurt, they will cry and fuss, especially when recumbent at night. Certainly, pain is present with acute or smoldering infection. However, many little ones have ongoing thick sterile effusions and offer very few complaints. Their mothers may or may not suspect a hearing loss. We have little history to go on. If a child has several months of abnormal ear findings despite appropriate antibiotics for acute otitis and sinonasal adenoid infection, the family physician or pediatrician should consider ENT consultation. This brings us again to ventilating tube insertion. Most specialists feel that if a child endures continuously abnormal ears with hearing loss for 3 months or more, despite all conservative efforts, tubes are the answer. The recovery of hearing is usually immediate and noticeable. However, the tubes do not cure...

Overview of Mastoiditis

Having discussed a number of forms of mastoiditis, some clarification is in order at the end of this chapter. This diagnosis was ominous in the old days before antibiotics. It often led to primitive surgery, deafness, brain complications, and sometimes death. Times have changed. Now there are fewer acute cases and more refined treatments. As a review, some definitions and explanations are presented here.

Speech Audiometry

A different type of measurement, speech discrimination, is the percentage of a long list of one-syllable words that the subject can repeat correctly when these words are presented at a moderately low intensity. Discrimination of 90 or better is considered acceptable. Hearing loss in the higher frequencies, where consonant sounds are heard, often reduces speech discrimination scores. Different types and causes of hearing loss can affect different frequencies. Certain recognizable patterns of loss show up repeatedly. Examples include the sloping high-frequency loss of presbyacusis (hearing loss associated with aging), the notched high-frequency loss of noise damage, or the low-frequency loss of early Meniere's disease. These problems will be discussed further in later chapters.


Nonspecific myringitis is a rare disorder of the TM. It tends to be chronic or intermittently recurrent, and is seen more often in warm, humid conditions. Those afflicted complain of moisture and blockage in the ear. The TM shows tiny, weeping, polypoid granulations on the surface, with a moist but clear external canal. The drum has good mobility and the hearing is near normal except in cases of heavy secretions or advanced scarring of the drum. The middle ear is clear. Use of antibiotic-steroid eardrops is an effective treatment, although the problem may persist and recur. An ear culture might provide further useful information. Chronic cases can build up large granulations on the drum that lead to dense scarring and significant hearing loss. Surgery may be necessary in some cases.

Pure Tone Audiometry

On this graph, the vertical axis plots hearing level (HL) in decibels (dB), tiny units of loudness. These two abbreviations are usually used together (dB HL) to report a patient's test results or to refer to the level of loudness of a given tone. Zero dB HL is near the top of the graph this level is barely audible to a human with perfect hearing. The louder the sound needed for a test response, the greater a patient's hearing loss. Thus, the scale is inverted a lower number means better hearing. Above 0, there is a line for -10 dB HL, indicating supranormal hearing, something like 20 15 vision. At the other extreme, some very loud sounds can be 110 dB HL or even greater, such as a nearby jet engine (roughly 125 dB HL). Most audiometers only go to 110 dB HL. For all practical purposes, an individual Between these extremes, shown on the right side of Figure 1.1, are examples of everyday sounds at their approximate decibel levels. For instance, conversational speech is roughly at 45 dB...

Tuning Forks

The Rinne test, modified here for simplicity, is a quick way to screen one ear for conductive (outer or middle ear) hearing loss. Place the stem of the vibrating tuning fork on the patient's mastoid bone for a few seconds, then hold the still-vibrating forked portion about 10 cm from the patient's external ear. Ask, Is it louder on the bone or out here in the air A patient with normal hearing (or a sensorineural loss) will note louder hearing out in the air, rather than on the bone. On the other hand, a patient with a significant conductive loss (25 dB HL or more) will hear the fork louder on the bone than in the air. If you have a tuning fork available, try this on your own right ear with the canal open the Rinne should be normal. Now occlude your canal tightly with the left index finger, creating a conductive loss, and test again the Rinne should be abnormal or reversed. Using

Aetiological Classification

This autosomal dominant syndrome was first described in 1972 116 . It is estimated to have an incidence rate of 1 250,000 live births 70 . TBS has great variability among affected families 89 , but in general the main characteristic features of TBS are (1) ARM (imperforate anus and anal stenosis), (2) hand malformations in the form of preaxial Polydactyly with diverse thumb anomalies ranging from vestigial, broad, to triphalangeal thumb, and even distal ulnar deviation of the thumb and (3) external ear malformation (microtia, external auditory atresia, satyr ear with overfolding of the superior helix, preauricular pits and sensorineural deafness). Other associated anomalies are congenital heart malformations, mostly tetralogy of Fallot, ventricular septal defect, truncus arteriosus and genitourinary anomalies (which can include dysplastic kidneys, vesicoureteric reflux and hypospadias) mental retardation has been noted in variable degrees 89 . The major criteria for the diagnosis of...

Chronic Mastoiditis

The onset of this infection is insidious. Clinically, there is a persistent painless, purulent, foul-smelling, scanty discharge that is unresponsive to conventional antibiotic therapy. It is often the odor that prompts the patients to seek advice. There is conductive hearing loss that is shown audiometrically. Otomicroscopic examination of the middle ear should be done (18). Specimens should be collected for Gram and acid-fast stains and cultures for aerobic and anaerobic bacteria, mycobacteria and fungi. Biopsy of suspicious tissue should be obtained.

Otitis Media With Effusion

OME is a common cause of mild hearing loss in children, most often between the ages of two and seven years. The middle ear contains fluid that varies from a thin transudate to a very thick consistency (glue ear). Eustachian tube obstruction is usually caused by primary congenital tube dysfunction. Other possible contributing factors are allergic rhinitis, adenoidal hyperplasia, supine feeding position, or a submucous cleft. Middle-ear effusion was found to persist for at least one month in up to 40 of children who had suffered from AOM, and for at least three months in 10 of afflicted children (27).

Clinical Characteristics

Interestingly, several studies have suggested abnormalities might occur outside of the central nervous system in patients with ET. These include a study of hearing loss in patients with ET. In that study 41 , patients with ET had significantly more hearing disability, as measured by the Nursing Home Hearing Handicap Resident and Staff Assessment, than did patients with PD or normal controls. Also, a higher percentage of ET patients (16.6 ) wore hearing aids than patients with PD (1.6 ) or normal controls (1.6 ). The authors concluded that the basis for the hearing loss might be cochlear-vestibular involvement. In another study 42 , the authors showed that the peripheral silent period was shorter in patients with ET compared to normal individuals, indicating a possible role for peripheral modulation of the tremor.

Jun Nterminal kinase inhibitors

JNK, a mitogen-activated kinase, has been shown to play a role in neuronal death. The JNK pathway is an important mediator of cell death. It is activated in focal cerebral ischemia in the mouse and mediates neuronal death. This is supported by the protection of JNK3 knockout mice from kainic-acid-induced seizures, apoptosis and ischemia 70,71 . Thus, JNK inhibition is a target to prevent neurotoxicity following excess excitatory amino acid release, as seen following acute ischemia 72 . Several studies have demonstrated the benefits of peptide inhibitors of JNK in experimental models of ischemic stroke, traumatic nerve injury, neurodegenerative diseases and hearing loss 72,73 . In recent published results the neuroprotective action of D-JNKI1, a cell penetrating and protease-resistance peptide selectively inhibiting the c-Jun-N-terminal kinase, was demonstrated 74 . D-JNKI1 was shown to provide neuroprotection in two models of mild focal cerebral ischemia 30 min endoluminal (suture)...

Causes Of Diabetes Insipidus

Congenital central diabetes insipidus (DI), autosomal-dominant form. This condition has been described in many families in Europe and North America. It is an autosomal dominant inherited disease associated with marked loss of cells in the supraoptic nuclei. Molecular biology techniques have revealed multiple point mutations in the vasopressin-neurophysin II gene. This condition usually presents early in life 25 . A rare autosomal-recessive form of central DI has been described that is characterized by DI, diabetes mellitus (DM), optic atrophy (OA), and deafness (dIDMOAD or Wolfram's syndrome). This has been linked to a defect in chromosome-4 and involves abnormalities in mitochondrial DNA 27 . SP signal peptide VP vasopressin NP neurophysin GP glycoprotein.

Preoperative abnormalities

Bone enlargement and deformity may encroach on either the central or peripheral nervous system, and produce a variety of neurological symptoms. Basilar invagination can cause compression of the brainstem, cerebellum or cranial nerves, to produce deafness, headache, or hydrocephalus. Hypertrophy of the spine can cause nerve entrapment, spinal compression, and cauda equina syndrome. Ossification of extradural structures can produce spinal stenosis or result in ischaemic neuropathy.

Mitochondrial myopathies

Cerebral lesions resembling small vessel strokes, and patients may also have pre-existing migraine headaches and or seizures. Other associated symptoms include myopathy, ataxia, cardiomyopathy, diabetes mellitus, renal tubular disorders, retinitis pigmentosa, lactic acidosis, and hyperalaninemia. The disease usually starts in the fourth or fifth decade. ii) Myoclonic epilepsy and ragged-red fibers (MERRF) symptoms start in early childhood to adulthood. Clinical findings include myoclonic and or generalized or focal seizures, cerebellar ataxia, myopathy, corticospinal tract deficits, dementia, optic atrophy, deafness, peripheral neuropathy, cardiomyopathy, multiple symmetric lipomatosis, and renal tubular acidosis. iii) Mitochondrial myopathy and cardiomyopathy This disorder is associated with a hypertrophic cardiomyopathy, congestive heart failure, bilateral cataracts, insulin-dependent diabetes mellitus, my-opathy of very great severity, and Wolf-Parkinson-White syndrome. Multiple...

Osteogenesis imperfecta

Type I is of autosomal dominant inheritance and present in 80 of cases. Extraskeletal tissues are mainly involved and the bone disease is mild. Fractures mainly occur in childhood but become less common after puberty. The joints are hypermobile, and the tendons susceptible to rupture. Patients are almost normal in stature. The sclera are blue, 50 have early-onset deafness and only some children have dental problems.The aortic valve is thin, and sometimes incompetent.

Hospitals And Clinical Medicine

Some doctors were known for the huge fortunes they had acquired, whereas a few were remembered for establishing hospitals and charitable clinics. Most experts in medical ethics argued that it was appropriate to charge fees for treating the sick. The physician needed to earn enough to marry and educate his children, without having to engage in work that would interfere with the study of science. Thus, it was important for the rich to pay large fees so that the doctor could care for the poor without charge. Dressed in his white shirt and cloak, distinctive doctor's turban, carrying a silver-headed stick, perfumed with rose-water, camphor, and sandalwood, the physician was an impressive figure. However, despite the honors accorded to scholar-physicians, skepticism about medical practitioners remained strong. In many popular stories, the Devil appears disguised as a physician, or the physician kills his patient through ignorance or treachery. In one such story, a physician murdered his...

Common cold virus See human rhinoviruses

Congenital rubella syndrome Although rubella is usually a trivial childhood exanthem, if infection occurs in utero during the first 3 months of pregnancy, 20 of infected infants are born with one or more multiple severe congenital abnormalities, including neurosensory deafness, total or partial blindness, congenital heart disease and microcephaly with mental retardation. There may also be bone translucency, retardation of growth, hepatosplenomegaly and throm-bocytopenic purpura. Vaccination of girls age 15 months against rubella as part of

Associations with an Increased Genetic Risk

Other potential links to EDNRB include those syndromes where ARM are associated with HSCR (Kaufman-McKusick) 60 , Pallister-Hall 80 or sensorineural deafness (Towne-Brock 58 and Lowe 61 syndromes) where a common genetic background may be postulated.

Fascioscapulohumeral muscular dystrophy FSHMD

Scapuloperoneal Muscular Dystrophy

In FSHMD, protruding scapulae (winging) (Fig. 16) may be noted by the parents of the child. There may be winging of the scapulae with the arms dependent, on arm abduction, or with arms straight against the wall. The pectoral muscles are often poorly developed and there is frank pectus excava-tum so that the chest seems to be caved-in. Due to the scapula disorder, the arms cannot be raised to shoulder level even though strength in the supraspina-ti, infraspinati, or deltoids may be normal. This may result in difficulty lifting objects, however the hands maintain function for many years. In the legs there is distal muscle weakness resulting in a scapuloperoneal syndrome. Other symptoms include difficulty with whistling, closing the eyelids, and weakness of the abdominal muscles with a positive Beevor's sign. The reflexes may be either preserved or absent if muscle weakness is severe. About 10 of adults lose the ability to walk and are in wheelchairs, although in general most adult...

Auditory gyri photographic view

Transverse Gyri Heschl

Since the auditory system has a bilateral pathway to the cortex, a lesion of the auditory pathway or cortex on one side will not lead to a total loss of hearing (deafness) of the opposite ear. Nonetheless, the pathway still has a strong crossed aspect speech is directed to the dominant hemisphere.

Neurologic Sequelae Newborns

Dermal Erythropoiesis

This infant with cytomegalovirus infection has a low birthweight due to intrauter-ine growth retardation and shows the blueberry muffin appearance, microcephaly, and abdominal distention due to marked hepatosplenomegaly. Cytomega-lovirus infection is asymptomatic in approximately 90 of infected infants at birth. Of these, 5 to 10 develop late-onset sequelae such as hearing loss, chorioretini-tis, mental retardation, and neurologic sequelae. The remaining 10 may have mild to severe and occasionally fatal disease.

Perinatal Infection

Rubella Virus

The immediate and long-term effects of perinatal infection are a major problem throughout the world. Perinatal infection is relatively common among the over 4 million births per year in the United States but the incidence is dependent upon the organism. One percent of newborn infants excrete cytomegalovirus. Fifteen percent are infected with Chlamydia trachomatis one-third develop conjunctivitis and one-sixth, pneumonia. One to eight per 1,000 live births develop bacterial sepsis. In utero or perinatal infection with herpes simplex virus, Toxoplasma gondii and varicella-zoster virus occurs in about 1 per 1,000 live births and the sequelae may be severe. In-utero acquired infection may result in resorption of the embryo, abortion, stillbirth, malformation, intrauterine growth retardation, prematurity, and the numerous untoward sequelae associated with chronic infection. Infection acquired at or soon after birth may lead to death or persistent postnatal infection. Some infections may be...

Diagnosis Investigation And Discussion

Diagnosed (laryngoscopy showed glottis oedema and a 1 -2 mm white lesion on the right ventricular band). On the basis of synchronous symptoms we investigated two associations ear involvement with hearing loss and rhinitis with sinusopathy. Rhinitis with sinusopathy was diagnosed based on rhinoscopy showing hyperaemia with no focal lesion and perinasal sinuses CT-scan images compatible with chronic pansinusopathy of ethmoido-maxilar predomination, with destructive characteristics (amputation of the conchae and sept perforation). ENT findings were normal otoscopy positive hearing tests for mixed conductive and sensory hearing loss of light degree on the left side and of moderate degree on the right side. CT scan of the temporal bones showed bilateral middle ear involvement right side occlusion of the oval and round windows by liquid collection no signs of cholesteatoma or of ossicle destruction, compatible with bilateral medial chronic otitis, particularly on the right ear. It is known...

Laughing Gas Ether And Surgical Anesthesia

Laughing Gas Surgical Operation

The ingenious discoveries of the first pneumatic chemists provided new opportunities for quacks and charlatans. Conscientious experimentalists could not compete with charlatans promising miraculous cures for asthma, catarrh, consumption, and cancer through the inhalation of oxygen, hydrogen, and other ''factitious airs.'' Some physicians, however, attempted to find legitimate medical uses for the new gases. Fascinated by pneumatic chemistry, Thomas Beddoes (1760-1808) persuaded his friends Thomas Wedgwood (1771-1805) and James Watt (1736-1819) to help him establish the Pneumatic Institute, a hospital in which the inhalation of factitious airs was used in the treatment of lung disease. Many scientists, including Humphry Davy, were intrigued by his work. While suffering from toothache in 1795, Davy began inhaling nitrous oxide. In addition to feeling giddy, relaxed, and cheerful, Davy noted that the pain caused by his wisdom teeth had almost disappeared. Soon after the exhilaration wore...

Pathology And Pathophysiology 921 Target Tissues and Pharmacokinetics

The pathology of aminoglycoside damage was established quickly after the discovery of the clinical symptoms, while it took almost five decades to unravel the underlying molecular mechanisms. The ototoxic side effects of aminogly-cosides include damage to the vestibular system, resulting in balance disorders, and damage to the cochlea, resulting in hearing loss.3 Nephrotoxicity is associated with damage to the proximal tubules, potentially resulting in renal failure. Aminoglycoside antibiotics can express one or more of these toxicities both in patients and in animal models, but the tissue targets of these drugs are not predictable by any structure-activity relationship. For example, gentamicin is considered more vestibulotoxic than cochleotoxic in the human and is therefore frequently used for vestibular ablation in Meniere's disease.4 In contrast, amikacin or neomycin may primarily target the cochlea. Most strikingly, streptomycin is almost exclusively vestibulotoxic while the...

Leptomeningeal Carcinomatosis

Ally in the setting of disseminated, progressive disease.25 As mentioned above, this complication is more commonly observed in patients with infiltrating lobular cancer. The majority of patients will present with neurologic signs referable to some combination of cerebrum, cranial nerves, and spinal cord, although the patient may complain only of a single symptom.26 The single-most common complaint is weakness of the legs, perhaps accompanied by pain or paresthesias. Cranial nerve involvement can produce diplopia, facial numbness or weakness, and hearing loss. Involvement of the cerebral cortex is heralded by headache, impaired memory, lethargy, and nausea.

Genetic Models Of Dystonia

The mouse mutant known as wriggle mouse Sagami (wri) arose spontaneously at the Ohmura Institute for Laboratory Animals in Japan. Investigators identified the mutation in wriggle mouse Sagami as a point mutation in the Pmca2 gene, a plasma membrane Ca2+-ATPase (Takahashi and Kitamura 1999). This mutation is allelic with deafwaddler (dfw), a mutant that investigators studied as a model of deafness and vestibular disorders. In fact, stereocilia of the cochlea are completely absent in wriggle mouse Sagami (Takahashi and Kitamura 1999), the cochlea and saccule degenerate, and the mice are completely deaf at one month of age (Takahashi et al. 1999). No gross changes occur within the nervous system itself, but closer inspection reveals a decrease in the number of parallel fiber Purkinje cell contacts and an increase in bouton-like structures of Purkinje cells (Inoue et al. 1993). Additionally, the levels of several neurotransmitters are altered in these mutants norepinephrine and serotonin...

Disease And Impairment Models In Drug Discovery

Testing normal animals under challenging conditions as an impairment model can also lead to false-positive outcomes. Parametric manipulations likely do not disrupt cognitive performance in the same way as the disease process of interest. Thus, it is possible that an approach that improves performance in normal animals under challenging conditions does so through actions on processes that are not involved in disrupting performance in a disease state. Of course, cognitive enhancement does not have to be mediated by correcting the process that is impaired in the disease state. A noncognitive example that illustrates this point is that a hearing-impaired person who learns to sign and read lips is not correcting an auditory deficit, but is overcoming hearing loss nonetheless. However, it is entirely possible that a compound that improves the performance of a normal brain will not do so in an abnormal brain, perhaps because a necessary substrate is missing. In an extreme example, a receptor...

Smallpox Inoculation Vaccination And Eradication

Unlike most viruses, the smallpox virus is quite stable outside its host and can retain its powers of infectivity over fairly long periods of time. Typically, the disease spreads from person to person by droplet infection however, the virus may also be transmitted by clothing, blankets, or shrouds contaminated with pus or scabs. After a person is exposed, the virus multiplies rapidly and spreads throughout the body. Following an incubation period of about 14 days, there is a sudden onset of flu-like symptoms, including fever, aches and pains, coughing, sneezing, and fatigue. At this stage an accurate diagnosis is almost impossible, because many illnesses begin with fever, aches, sneezing, nausea, and fatigue. A few days later flat, red vesicles appear, first in the mouth and throat, then on the face, and finally on the arms, legs, palms, and soles. The vesicles turn into pus-filled blisters, which eventually dry out as scabs form, but in some cases the whole body is covered with a...


As previously mentioned, another drawback limiting an expanded therapeutic use of the aminoglycosides is their toxicity, which varies in form and intensity with the different types of molecules the main toxic responses are ototoxicity and renal toxicity.48 Streptomycin and other aminoglycosides target sensory hair cells of the inner ear and can lead to hair-cell degeneration and permanent loss this occurs by an as yet undetermined mechanism and leads to irreparable hearing loss in up to 5 of patients on extended treatment with aminoglycosides.49 A variety of dosing regimens have been employed and shown to reduce the incidence of toxicity.50 On the positive side, significant advances in understanding of the general mechanisms of drug-induced ototoxicity in recent years have provided important information on the genetic and structural elements of hearing loss in humans it would appear that mutations affecting mitochondrial rRNA predispose to aminoglycoside ototoxicity.51



Struction resulting in obligatory mouth breathing (Renier et al. 2000). Occasional manifestations include mental retardation, hydrocephalus, seizures, conductive hearing loss, spinal anomalies (fusion between the 2nd and 3rd cervical vertebrae), and subluxation of the radial head with limited elbow extension. Family history is negative in about one quarter of cases, which presumably represent fresh new mutations. Mutations involving the FGFR2 gene, which maps to 10q26, cause Crouzon syndrome (Reardon et al. 1994). An identical mutation in the same gene may cause Pfeiffer syndrome,whereas different mutations in the same gene cause Apert syndrome and Jackson-Weiss syndrome. A variant form of Crouzon syndrome is associated with acanthosis nigricans and is caused by mutation in the FGFR3 gene (Meyers et al. 1996). Apert syndrome (OMIM 101200) includes severe craniofacial anomalies and osseous and or cutaneous syndactyly of hands and feet, often with complete fusion of the 2nd to 4th...

Adverse effects

Most side-effects are gastrointestinal. Erythromycin in particular can cause nausea and vomiting in some patients. Clarithromycin and azithromycin are tolerated better, and are good alternatives in patients who are intolerant of erythromycin. Some patients are allergic to macrolides, and a hypersensitivity to one macrolide confers cross-class allergy. Erythromycin has also been known to cause reversible hearing loss. Erythromycin is safe to use in pregnancy and lactation. Azithromycin is not licensed in the UK for use in pregnancy however, some GUM centres use it in pregnancy following a detailed discussion with the mother-to-be.

Figure 31

Alport's syndrome (hereditary nephritis) is a hereditary disorder in which glomerular and other basement membrane collagen is abnormal. This disorder is characterized clinically by hematuria with progressive renal insufficiency and proteinuria. Many patients have neurosensory hearing loss and abnormalities of

CHARGE association

An association of congenital abnormalities characterised by Coloboma of the eye, Heart disease, Atresia of the choanae, Retarded growth development and or central nervous system abnormalities, Genital hypoplasia in males, Ear anomalies and or deafness. Diagnosis is made on the presence of at least four of the criteria.A retrospective study of 50 patients showed that, apart from choanal atresia and cleft lip and palate, 56 of patients had some other upper airway abnormality (Stack & Wyse 1991). Muscular hypotonia is common. Anaesthesia may be required for choanal atresia repair, cardiac surgery, tracheo-oesophageal fistula, ear surgery, Nissen's fundoplication, and tracheostomy.Treatment requires a multidisciplinary approach.

Figure 348

Familial amyloidosis involving the kidneys has been reported by Ostertag 19 and others 20-22 . Families with apolipoprotein A1 mutation, as well as mutations in the fibrinogen a-chain gene, have been recognized. On presentation, patients with renal involvement exhibit hypertension and mild renal insufficiency that progresses to endstage renal failure. The amyloid deposits have mutations in the fibrino-gen a-chain gene. This form of amyloidosis is autosomal dominant. No peripheral neuropathy develops, and the onset of renal disease occurs in the fifth to seventh decades of life. The mutation consists of the substitution of glutamic acid for valine at position 526 of the fibrinogen chain. A mutation in fibrinogen has been described at position 554 23,24 . A rare form of inherited secondary amyloidosis produces nephropathy, deafness, and urticaria. This form has been referred to as the Muckle-Wells syndrome 25 . (Adapted from Kyle and Gertz 26 .)

Days In Culture

Medical intervention counteracts some causes of ageing, and the best example is care of teeth. Teeth wear out with age, and they get infected, but these problems can be dealt with by dentists. Examination of Egyptian mummies has shown that tooth abcesses were common, and in some cases lead to septicaemia which would usually have been lethal. With modern medical treatmentent, defective joints in the hip can be replaced kidneys, livers or hearts can be transplanted hearing aids alleviate deafness cataracts can be removed and replaced with an implant, and spectacles have been used for centuries to improve vision. New treatments for delibitating diseases in the elderly can be expected, but we certainly should not glibly assume that the fundamental causes of ageing will be prevented or reversed. The myths of life extension will be explored in a later chapter.

Figure 152

If you are surprised to find hearing disorders among the neurological, remember that many disorders of hearing are related to a deficit either in the transduction of sound into neural activity or in the eighth cranial nerve itself. Looking at the statistics presented in Figure 15-2 and Table 15-4, we can only marvel that most people are relatively normal most of the time. Deafness Partial deafness

Atypical Karyotypes

The high risk of AD in DS is also associated with early mortality, with an average life expectancy at birth of only 56 years (Baird and Sadovnick,1988). Karyotypic analysis of adults aged over 70 years with DS can provide an opportunity to identify genetic factors associated with longevity. While these cases are rare, they are highly informative and suggest that karyotypes that decrease pAPP load are associated with improved survival and reduced risk of AD. Prasher and colleagues determined the clinical and molecular correlates of partial trisomy 21 in a 78-year-old woman with DS 46,XX,rec(21)dup q, inv(21) (p12q22.1) (Prasher et al., 1998). Although she did not display the full range of stigmata associated with the DS phenotype, she developed several of the characteristic age-related medical conditions, including hypothyroidism, cataracts, hypotonia, and hearing impairment. Analysis of gene sequences on chromosome 21 using fluorescent in situ hybridization showed that the partial...


Neurofibromatosis Caf Lait Images

In Waardenburg's syndrome, an autosomal dominant condition, a white forelock is characteristic. It is a form of partial albinism (poliosis). In addition to the white forelock, there is dystopia canthorum (lateral displacement of the medial canthi and lacrimal puncta of the lower eyelids), synophrys, heterochromia iridis, broad nasal root, and congenital deafness. If the inner canthal distance divided by the interpupillary distance is greater than 0.6, this lateral displacement of the inner canthi may help confirm the diagnosis.

Middle Ear Infection

Otitis23 media (middle-ear infection) is common in children because their auditory tubes are relatively short and horizontal. Upper respiratory infections can easily spread from the throat to the tympanic cavity and mastoidal air cells. Fluid accumulates in the cavity and produces pressure, pain, and impaired hearing. If otitis media goes untreated, it may spread from the mastoidal air cells and cause meningitis, a potentially deadly infection (see insight 14.1). Otitis media can also cause fusion of the middle-ear bones and result in hearing loss. It is sometimes necessary to drain fluid from the tympanic cavity by lancing the eardrum and inserting a tiny drainage tube a procedure called myringotomy.24 The tube, which is eventually sloughed out of the ear, relieves the pressure and permits the infection to heal.

Skull Thickening

Craniotubular Dysplasias

Comprises coarse facies with facial edema similar to that seen in the Melkersson-Rosenthal syndrome (OMIM 155900) and progressive granulomatous swelling of the lips, swelling of subcutaneous tissue, mental retardation, sensorineural hearing loss, and marked thickening of the calvaria. The hands are short and stubby, with broad terminal phalanges. Inheritance is assumed to be autosomal recessive (Fountain 1974 Fryns 1989). craniometaphyseal dysplasia (OMIM 123000,218400), hyperostosis and sclerosis involve the cranial vault (especially the frontal and occipital regions), skull base and, in some cases only, mandible and facial bones. Bony overgrowth and sclerosis of the skull base cause variable compression of cranial nerves VII and VIII, resulting in peripheral facial nerve palsy and vertigo (Beighton et al. 1979). Bony encroachment on the optic foramen may result in optic atrophy and visual loss. Involvement of the otic capsule and tympanic cavity causes sensorineural, conductive, or...

Quinine And Malaria

Despite Sydenham's conviction that the bark was harmless, the use of quinine can cause some very unpleasant side effects, including headaches, vomiting, rashes, and deafness. Indeed, some physicians used complaints about ringing in the ears to determine the optimum dosage for each patient. Because few practitioners, or patients, could accept the concept of specificity in diseases and remedies, Peruvian bark was freely prescribed for fevers, colds, flu, seasickness, headache, and hangovers. But quinine is a specific remedy for the specific intermittent fever known as malaria. Its use as a general febrifuge and tonic exposed many people to risks without benefits.