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Biomedical subjects

M Vernon

Publications and source records attributed to M Vernon.

At least 55 records · Page 3Linked to original sources

Usher syndrome: definition and estimate of prevalence from two high-risk populations.

The Usher Syndrome (US) refers to the combined neurosensory deficits of profound hearing impairment and retinitis pigmentosa. We have obtained information on 600 cases of deaf-blindness from the registry of the Helen Keller National Center for Deaf-Blind Youths and Adults (HKNC). Of these, 54% met the diagnostic criteria of US, although only 23.8% were so diagnosed. More extensive analysis of 189 Usher clients from HKNC showed an excess of males, some variability in audiograms, and wide ophthalmologic variation. Genetic analysis of 113 sibships showed a segregation ratio consistent with recessive inheritance. The Acadian population of Louisiana has a high frequency of US which contributes significantly to the deaf population of the state. Among 48 cases from the Louisiana School for the Deaf, there was an excess of males, more variability in audiograms than expected, and an increased segregation ratio in the 26 informative sibships. Estimates of prevalence obtained using registry data and statistics from Louisiana clearly suggest that the previous estimate of 2.4 per 100,000 is too low for the United States. Recognizing problems with ascertainment, our prevalence estimate of 4.4 per 100,000 is still considered quite conservative.

Adult↗

Hearing loss.

Defective hearing is the most prevalent chronic health problem in the United States, making it a primary concern of the physician. Failure to diagnose, misdiagnose, and delay of diagnosis of hearing loss are common errors that have serious implications. However, they can be avoided. If children exhibiting the symptoms of delayed language, articulation defects, and academic problems (especially with reading or a medical history of certain diseases) are referred for audiological testing, most cases of hearing impairment will be promptly detected. With adults the implications of hearing loss are different, both medically and psychosocially. After 30 years of age the prevalence of hearing defects increases rapidly. Some major causes are noise, otosclerosis, otitis media, and presbycusis. Surgery and amplification are the principle treatments. Management of nonmedical aspects should involve programs such as the Division of Vocational Rehabilitation, state schools for the deaf, and sign language classes.

Adult↗

Rhabdomyolysis in a patient with nonoliguric renal failure: similarities to the toxic-shock syndrome.

We have described a 13-year-old girl with idiopathic rhabdomyolysis, myoglobinuria, and nonoliguric renal failure. The biochemical abnormalities and enzyme and isoenzyme values and their interrelationship to the hosptial course are stressed. We believe our patient's condition had marked similarities to the toxic-shock syndrome. The case illustrates the importance of the rapid recognition of myoglobinuria so that its potentially fatal biochemical abnormalities may be expeditiously identified and treated.

Acute Kidney Injury↗

Counseling the parents of birth-defective children.

Parents of a child who is diagnosed as defective face a crisis for which they are usually unprepared. They need an opportunity to work through their intense feelings. In addition, they need specific information about how to be of use to their child. Self-help groups composed of parents of children with a similar handicap can be a resource of great value during this crisis as well as in the years that follow. When such groups are not available, parents can be placed in contact with a family that is effectively raising a child with the same handicap or an adult who has successfully coped with it. Physicians should be aware of their own feelings regarding handicaps and of the effect these may have on efforts to help parents.

Attitude of Health Personnel↗

Lymphomatoid granulomatosis. Report of a case and review of the literature.

A 24 year old man had a nonproductive cough and chest pain. Chest roentgenogram showed a diffuse infiltrate, and pulmonary function studies showed restrictive lung disease. Extremity weakness, deteriorating mental status and neuropathy progressed as pulmonary findings diminished on corticosteroid therapy. Lung biopsy showed lymphomatoid granulomatosis. The neurologic status deteriorated despite treatment with Cytoxan, intrathecal methotrexate and brain irradiation. Autopsy showed mass lesions of lymphomatoid granulomatosis in the brain and healed lesions in the lungs. A review of the neurologic and pulmonary findings in reported cases show that diminution of pulmonary disease with progression of neurologic disease manifest by mass lesion is unusual. Since the etiology, prognosis and prevalence of this disease remains undefined, all patients with this disease should be reported on.

Adult↗

Ventilation-perfusion lung scanning for pulmonary emboli.

The conventional method of lung scanning detects defects of pulmonary artery perfusion. False positive results occur because regions of hypoventilation, such as are present in obstructive airways disease, also cause defects of perfusion. The converse is not true, however, as defects of perfusion continue to be ventilated. Thus in pulmonary embolism ventilation-perfusion discrepancy (normal ventilation and impaired perfusion) occurs.We have assessed the clinical value of this discrepancy. Out of 18 patients with ventilation-perfusion discrepancy 14 had a final diagnosis of pulmonary emboli, whereas in none of the 34 patients without the discrepancy was this final diagnosis made. We conclude that combined ventilation-perfusion lung scanning distinguishes pulmonary emboli from other lung conditions such as asthma and bronchitis which cause impaired pulmonary perfusion. The false positive rate was only 4% overall and 7.7% in patients with perfusion defects.

Airway Obstruction↗