1/25. mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome.Mulibrey (muscle, liver, brain, eye) nanism is probably an autosomal recessive condition characterized by progressive growth failure of prenatal onset, triangular face with hydrocephaloid skull, general thinness and muscular hypotonicity, peculiar voice, venous congestion caused by pericardial constriction, and pigment dispersion and yellowish dots in ocular fundi. Two thirds of the patients had cutaneous nevi flammei and one third cystic fibrous dysplasia of the tibia. Probably a substantial portion of the affected are lost by early abortion and others by infantile death. The physical capacity and life expectancy seem to vary depending on the degree of the cardiac affection.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/25. Clinical effects of the Nd:YAG laser operating in the photodisruptive and thermal modes. A review.The clinical effects of the Nd:YAG laser operating in both the photodisruptive (Q-switched) and thermal (free-running, cw) modes are discussed, and their clinical applications investigated. Moreover, the physical background of the working modes is explored. When working in the photodisruptive and fundamental (TEM(00)) modes, it is possible to carry out delicate clinical tasks with minimally invasive effects. When the laser is being used in the multimode regime, tasks that are highly resistant to photodisruptive laser radiation can be undertaken. In the thermal mode, photocoagulation can be performed. Nd:YAG laser light (1,064 nm) has high optical tissue penetration and good hemostatic properties, particularly when it is being operated in the frequency-doubled mode (KTP laser).- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/25. Ocular manifestations of Donohue's syndrome.INTRODUCTION: Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. The physical features most often associated with this condition include hypertrichosis, pachyderma, acanthosis nigricans, prominent genitalia, and elfin-like facial characteristics of prominent eyes, wide nostrils, thick lips, and large, low-set ears. Not only is this syndrome rare, but it often results in infant and early childhood mortality. The literature regarding ocular manifestations is limited. CASE REPORT: We present a case of a 29-year-old male with Donohue's syndrome and significant ocular findings including a subluxated mature cataract, retinal detachment, high myopia, and optic atrophy. DISCUSSION: These ocular sequelae are discussed with regard to the noted endocrine dysfunction and its effects on tissue development and growth.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/25. Vitreoretinal traction and perimacular retinal folds in the eyes of deliberately traumatized children.The pathophysiology of perimacular folds in eyes of deliberately traumatized children is disputed. The authors reviewed the clinical and forensic records and systemic and ocular findings at autopsy of three children with perimacular retinal folds who died after being violently shaken. Two of the children suffered direct head trauma in addition to being shaken; one patient was violently shaken without any physical or forensic evidence of direct head trauma. No direct ocular trauma was detected. In each case, the vitreous had partially separated from the retina but remained attached to the internal limiting membrane at the apices of the folds and the vitreous base, implicating traction in the pathogenesis of these folds. Although some intraocular findings in deliberately traumatized children may be explained by direct head injury, the possibility of both direct head trauma and shaking must be considered. Perimacular folds may develop without direct ocular or head trauma and may constitute evidence supporting violent shaking.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/25. 46,XX gonadal dysgenesis with epibulbar dermoid.Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. Although sensorineural deafness has been described with 46,XX gonadal dysgenesis, the majority of reported cases of 46,XX gonadal dysgenesis have no associated physical abnormalities. We report a patient with 46,XX gonadal dysgenesis associated with epibulbar dermoids and preauricular skin tags, the classic ocular and skin manifestations of Goldenhar sequence (oculoauricular vertebral dysplasia). We propose that our patient may represent a new and previously unreported syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/25. Acquired torticollis in children.Acquired torticollis in children is a symptom that may be due to a number of underlying causes, some of which are severe and life threatening. Musculoskeletal, ophthalmologic, infectious, neurologic, and neoplastic conditions may present early with only torticollis. Because torticollis is a symptom, the broad spectrum of possible diagnoses requires a thorough and methodical workup. A wide variety of tests may be necessary, as well as specialty consultation. No matter how common or rare the disorder, it must be considered when evaluating a child with acquired torticollis. The first step in evaluation is always a careful and complete physical examination. An outline of the disorders associated with torticollis is presented, as are illustrative case histories.- - - - - - - - - - ranking = 5.7072875370928keywords = physical examination, physical (Clic here for more details about this article) |
7/25. Neuro-ocular Lyme borreliosis.Any patient who has a Bell's palsy (unilateral or bilateral), aseptic meningitis, chronic fatigue syndrome, atypical radiculoneuropathy, presenile dementia, atypical myopathy, or symptoms of atypical rheumatoid arthritis should be asked specifically about the following: visits to highly endemic areas, any known tick bites, any skin lesion suggestive of erythema migrans, any history of palpitations or of prior Bell's palsy, aching in joints (especially the knees), paresthesias, chronic fatigue and depression, forgetfulness, and eye problems. Any patient showing a chronic iritis with posterior synechiae, vitritis in one or both eyes, an atypical pars planitis-like syndrome, big blind spot syndrome, and swollen or hyperemic optic discs should be asked the same questions. The physician should send one red-top tube of blood containing 2 to 3 ml serum to microbiology Reference Laboratory, 10703 Progress Way, Cypress, CA 90630-4714, requesting a Lyme/treponemal panel. For $90 the patient will receive an RPR test with titer, serum FTA-ABS test, serum Lyme IFA IgG and IgM, and a serum Lyme ELISA test. If these tests are within normal limits and the physician is still suspicious, a Western blot can be ordered on serum. A green top tube with fresh white blood cells sent out by overnight express on a Monday or Tuesday will produce a Lyme PCR and a lymphocyte stimulation test. Finally, R.K. Porschen, director of MRL Laboratory, will provide information on the urine antigen test on an investigational basis. A careful history with emphasis on the specific questions noted above, a complete neuro-ophthalmological and physical examination ruling out other causative problems, and the laboratory studies here discussed will usually provide sufficient data to choose therapy. Much further active research into Lyme borreliosis is an important priority in medicine.- - - - - - - - - - ranking = 5.7072875370928keywords = physical examination, physical (Clic here for more details about this article) |
8/25. Goldmann-Favre maculopathy.A healthy 17-year-old girl presented with typical symptoms and physical features of Goldmann-Favre vitreoretinal degeneration. She had reduced visual acuity in both eyes and night blindness. Her parents were first cousins. Striking fundus features included typical maculopathy with a radiating stellate pattern surrounded by tiny vacuole-like pockets of retinoschisis throughout the posterior pole within the temporal vascular arcades. The fundus features were quite typical and permitted a firm diagnosis when combined with the other features of night blindness, gender, and electroretinogram (ERG) abnormalities.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/25. Posterior vitreous cyst.We observed two patients who had unilateral posterior vitreous cysts; one patient had been observed for 17 years. Both patients were young females who reported transient, infrequent obscurations of vision that were not disabling. One involved eye was emmetropic, and the other was highly myopic. No other ocular abnormalities were present. In the patient observed for 17 years, the physical characteristics of the posterior vitreous cyst remained unchanged. With this stable clinical course, posterior vitreous cyst that does not visually disable the patient may be managed by periodic observation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/25. Recovery after severe ethambutol intoxication--psychophysical and electrophysiological correlations.Six patients with severe ocular side effects caused by therapeutical doses of the tuberculostatic drug ethambutol were investigated during the course of recovery with psychophysical and electrophysiological methods. Three patients developed an optic atrophy with permanently reduced vision as a likely consequence of additional risk factors such as diabetes, alcohol abuse, and reduced kidney function. The severity of the neuritis of the optic nerve was not related to the total intake of ethambutol. The likelihood of a permanent ocular damage increased sharply if the visual acuity had dropped below a value of 1/10. permanently prolonged latency of the P-100 component was found in visual evoked potentials even in cases with good recovery from ethambutol-induced damage. The recovery of color vision could be monitored very well with the Farnsworth-Munsell 100-Hue Test which revealed a diffuse impairment of color discrimination with a slight prevalence of the red-green axis. In addition to the known disturbances of the red-green antagonistic neurons, it could be demonstrated by measuring transient tritanopia and spectral sensitivity functions that ethambutol also affects the blue-yellow antagonism at the retinal level.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |
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