1/16. Outcome of a baby born from a mother with acquired juvenile hypothyroidism having undetectable thyroid hormone concentrations.We report a baby born from a mother with strongly positive thyroid stimulation blocking antibody (TSBAB) and nearly undetectable T4 level. This case is a unique model of nearly complete absence of thyroid hormones during fetal and early neonatal life in humans. The infant girl was born by cesarean section, because of fetal bradycardia, after 41 weeks gestation and received mechanical ventilation for 3 days. The TSH level was more than 120 microU/mL in the neonatal thyroid screening. At age 17 days, the results of a thyroid function study showed undetectable free T3 and free T4 concentrations, TSH 550 microU/mL, and TSH receptor antibody (TRAB) 87%. thyroxine at a dose of 30 microg/day was started at age 17 days. The patient required thyroxine treatment until age 8 months. The brain magnetic resonance image at age 2 months revealed reduced brain size. Her auditory brain stem response was absent at age 2 months. The audiogram at age 4 yr revealed sensorineural deafness of 70 dB. When she was 6 yr of age, motor development remained the same as that at age 4 months. Her height was 106 cm (- 1.5 SD). The results of thyroid function study of the mother 23 days after delivery showed undetectable free T3 and free T4, TRAB 84%, and TSBAB 83%. In conclusion, the outcome of severe thyroid hormone deficiency in utero and early in human neonatal life was normal physical growth, fetal distress resulting in cesarean section, difficulty in the onset of breathing, permanent deficit in auditory function, brain atrophy, and severely impaired neuromotor development despite the start of an adequate dose of thyroxine replacement during the neonatal period.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/16. Development of the Three-Clinic Hearing Aid Selection Profile (HASP).The Three-Clinic Hearing Aid Selection Profile (HASP) was developed to assess a patient's beliefs about a number of basic considerations felt to be critical to the hearing aid selection (HAS) process. These characteristics are felt to be key to the acceptance of amplification and include motivation, expectations, cost of goods and services, appearance (cosmesis), attitudes about technology, physical function/limitations, communication needs, and lifestyle. The results of the first investigation suggest that we have been successful in developing a 40-item metric with adequate internal consistency reliability that assesses the aforementioned characteristics. Second, results of the administration of this tool to a large group of individuals indicated that (1) age impacted scores on the technology, Physical Function, and Communicative Needs subscales; (2) gender impacted scores on the motivation, Expectation, technology, Communicative Needs, and Appearance subscales; (3) previous hearing aid use affected scores on the motivation subscale; (4) level of education impacted scores on the Physical Function and Lifestyle subscales; and (5) self-perceived hearing handicap had an effect on motivation and Communicative Needs subscale scores. Percentile data collected from this subject sample are presented as a benchmark against which to evaluate responses from individual patients. Case studies are presented to illustrate the potential clinical utility of this device.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/16. Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.hajdu-cheney syndrome is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportionate short stature. The clinical and radiologic characteristics of hajdu-cheney syndrome develop and progress with age. Many of the medical problems that arise in this syndrome cluster in specific age ranges. case reports of six affected individuals in two additional families and a summary of the English literature is presented with emphasis on the changing physical findings and medical sequelae over time.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/16. The hajdu-cheney syndrome. Report of two cases and review of the literature.The hajdu-cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/16. The tuning curve in clinical audiology.This article will explore the audiograms formed by the expected psychophysical thresholds from single, normally functioning inner hair cells. Like the audiogram formed by the vibrotactile response region, these psychophysical tuning curves represent fundamental limits in audiometry since they are the worst possible thresholds expected, even if no other cells are functioning. These examples can be put to many uses, but the most important lesson of the hypothetical tuning curve audiogram is that whereas each cell gives rise to thresholds across many frequencies, it cannot be expected to transmit more than one cell's worth of speech information. In the clinic, this means that even when many frequencies respond on the audiogram, there may be a much more restricted set of actual cells remaining in the cochlea, and only these remaining cells will respond, for example, to hearing aids.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
6/16. genetic counseling for the deaf.genetic counseling is a process that emphasizes accurate diagnosis of hereditary conditions and communication of information to families. genetic counseling involves systematic collection of family and medical history, a physical examination by a certified clinical geneticist, sharing of information with the family, and follow-up and support services. The issues that arise in genetic counseling can differ for every family and are often dependent on the degree of deafness present in the family, age of onset, and linguistic and cultural orientation. It is important for the genetic counselor to consider these factors in the provision of genetic services. With the increasing application of molecular genetics to the diagnosis and management of hereditary deafness and the increasing participation of families with deafness in research studies, the involvement of genetic counselors to provide information and education to consumers as well as medical professionals and researchers is becoming even more critical. The success of genetic counseling for the provision of information to families and the delineation of types of hereditary deafness through clinical and laboratory research is dependent on appropriate referrals by medical professionals, including otolaryngologists. A working relationship between otolaryngologists and clinical geneticists for the referral and evaluation of patients with hereditary deafness or deafness of "unknown" etiology is important.- - - - - - - - - - ranking = 4.785206033646keywords = physical examination, physical (Clic here for more details about this article) |
7/16. Ultrastructural study of Norrie's disease.We studied the clinicopathologic and ultrastructural features of a full-term infant with Norrie's disease. The infant had bilateral retrolental fibrous vascular masses and retinal detachment with no other apparent physical abnormalities and no family history of ocular defects. A vitrectomy and a membrane peeling were attempted, and specimens of the retina, the retrolental membrane, and a vascularized epiretinal peripheral mass were examined by light and electron microscopy. The retrolental membrane was composed of layered collagenous tissue and contained structures resembling blood vessels. Inner and outer neuroblastic layers were identified in the retinal tissue, but no vessels were present. In the epiretinal mass, portions of retina and cortical vitreous were seen along with primitive vascular structures. The histologic appearance of these specimens suggests that the major pathologic event of Norrie's disease occurs in the retina in the third to fourth gestational month. We believe the subsequent ocular abnormalities found in this patient were secondary to this early retinal malformation and did not represent a progressive ocular disorder.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/16. Otologic and otoneurologic injuries in divers: clinical studies on nine commercial and two sport divers.In the past two decades, we have seen a great increase in the number of injuries from commercial and sport diving. During this time, our knowledge of the physiology and pathophysiology of diving has also increased. As a result, we now can accurately diagnose and successfully treat many of these injuries. Of the commercial and sport divers examined as pateints in the Department of otolaryngology at the University of texas Medical Branch in Galveston, Tex., between September, 1974, and May, 1975, 11 showed positive otologic and otoneurologic findings which are reported herein. One patient was surgically explored for an oval window fistula. In localizing and classifying these injuries, we have utilized extensive and broad-based test batteries, which include complete history, otologic and otoneurologic physical examination, audiometry, a central auditory test battery, and a vestibular test battery. These tests are described. The findings in each of the divers are illustrated and analyzed. This article further describes the use of these test batteries, which were employed to localize otoneurologic pathology in this sample of injured divers. Based on these cases, we have expanded and modified Edmonds' classification of the etiology of vertigo related to diving. We feel that the test batteries which we describe, or similar tests, should be part of the otologic and otoneurologic workup of injuries divers.- - - - - - - - - - ranking = 4.785206033646keywords = physical examination, physical (Clic here for more details about this article) |
9/16. Perilymphatic fistula: a new hampshire experience.Thirty-five patients with perilymphatic fistulas (PLFs) are presented. Of this group of 35 patients (39 ears), 4 patients did not have fistulas that could be observed with certainty but were presumed to have fistulas by virtue of their excellent response to surgical repair. Our case reports provide examples of the great variety and possible classifications of presentations and symptom complexes that lead one to suspect the diagnosis of perilymphatic fistula. Comments on diagnostic and therapeutic modalities and on postoperative care and counseling are included. The age range of patients in our series is 3 to 67 years. Four patients are under age 20, and an additional three patients probably developed their symptoms prior to age 20 but presented later. Twenty-three (79%) of 29 patients with spontaneous PLFs began having symptoms closely related to some event involving physical or mechanical stress, and a high percentage (76%) had symptoms aggravated by physical stress. Six are believed to have fistulas of congenital origin. There is a sibling pair and a mother and son in the series; these four people had bilateral fistulas.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
10/16. Acute cerebellar syndrome, conjunctivitis, and hearing loss associated with low-dose cytarabine administration.An unusual reaction associated with chronic low-dose cytarabine is described. A 77-year-old man complained of three to four weeks of hearing loss and progressive inability to walk without assistance. He had received two courses of cytarabine 100 mg sc/wk for the management of myelofibrosis myeloid metaplasia over 21 months. He received a total of 3 g over seven months during his first course followed ten months later with a 1.2 g over four months. conjunctivitis was also identified on physical examination at the time of his admission. He was admitted to the neurology service where a complete neurological work-up with consultations from the ophthalmology, audiology, hematology, and ear, nose, and throat services failed to identify a cause of his symptoms. cytarabine was discontinued on the suspicion that his symptoms were drug induced. The conjunctivitis resolved completely with ophthalmic antibiotics and corticosteroids. His hearing slowly improved over three to four weeks, and he was able to ambulate with a walker. He continued to improve at home although some hearing loss remained three months after his initial presentation. Although conjunctivitis and neurotoxicity are well-known complications of high-dose cytarabine, there are no prior reports of these reactions after low-dose therapy. hearing loss, which has not been previously reported with cytarabine alone, appears to be a new complication of cytarabine administration.- - - - - - - - - - ranking = 4.785206033646keywords = physical examination, physical (Clic here for more details about this article) |
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