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91.
A Sammartino R Cerbella G Lembo A Federico L Loffredo 《Journal fran?ais d'ophtalmologie》1986,9(11):725-729
The authors report an unusual case of Rubinstein-Taybi Syndrome, in which alterations such as blepharoptosis, unilateral microphthalmia, bilateral and inferior iris, lens, and choroidal colobomas and unilateral optic nerve pit are present in addition to apparently spontaneous multiple keloids. A histopathological study of the skin and a culture of fibroblasts have pointed out a reduction of the cell duplication time. 相似文献
92.
The thiosulfate:cyanide sulfurtransferase (rhodanese) enzyme (EC 2.8.1.1.) was studied in human leukocytes from control subjects and from nine patients with Leber's hereditary optic atrophy. Enzyme activity was proportional to protein concentration in the tested range (0.09 to 0.39 mg) as well as to incubation time. The optimal pH for reaction was 8.7 and the apparent Km for thiosulfate was 7 X 10(-3) M. No significant difference of enzyme activity was present in Leber's disease. 相似文献
93.
Antonio Fea Andrea Grosso Marilena Rabbione Federico Grignolo 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2007,245(2):315-317
Background Optic disc anomalies are frequently associated with Alagille syndrome. We report here the first case of a patient with Alagille
syndrome combined with optic pit and serous macular detachment.
Methods A male patient with Alagille syndrome was referred from the pediatric hepatology department for investigation of visual loss
in the right eye. Anterior segment examination showed evidence of posterior embryotoxon, confirmed by gonioscopic evaluation.
Dilated fundus examination revealed serous macular detachment and optic pit.
Results OCT 3 scans confirmed the clinical findings.
Conclusions Optic pit is uncommon and should prompt a search for genetic disorders or development abnormalities. The association between
the two syndromes in this patient might be due to failure of correct neuroectodermal development, for which a common genetic
pathway is likely. 相似文献
94.
95.
A E O'Hare MD FRCP G N Dutton FRCS FRCOphth D Green MB ChB MRCP Rosemary Coull 《Developmental medicine and child neurology》1998,40(6):417-420
The progress of cognitive visual dysfunction over an 8-year period of a child who sustained bilateral occipital-lobe infarctions at the age of 21/2 years is described. She survived with normal intelligence and went on to attend mainstream school. She manifested many features of cognitive visual impairment and, in particular, developed a form of pure alexia without agraphia. She achieved some letter-by-letter reading but no sight vocabulary development, including to her own name. She learned to write imaginatively employing phonetically true spelling but cannot read what she has written. Her progress and the difficulties encountered during the management of her condition are discussed in this first case report of the evolution of pure alexia without agraphia in childhood. The features of this syndrome in the developing child who has never developed the capacity to read are contrasted with that seen in affected adults. 相似文献
96.
97.
Summary: The electroencephalographic/video recordings of 955 spasms in children with cryptogenic and symptomatic West syndrome (WS) were reviewed to define the relation between a clinical manifestation of a spasm and its EEG pattern, and to examine whether these features reflect the etiology and prognosis of WS. The review confirmed the spasm to be a distinct type of seizure, with a unique clinical and EEG pattern unlike that of all other recognized seizures. Symmetric spasms were present in cryptogenic and symptomatic patients. In contrast, asymmetric spasms, or focal signs recognizable during a spasm, strongly indicated the existence of a cerebral lesion. In both etiological groups, the characteristic ictal EEG pattern of the spasms consisted of a positive-vertex slow wave. The other two patterns apparently correlated to a spasm, were fast activity, here called spindle-like, and decremental activity. The fast activity corresponded to a clinical stare, and the decremental activity, when present, represented a postictal event. Although it was independent from the etiology of the spasms, persisting hypsarrhythmia during a cluster of spasms appeared to be an EEG pattern that correlated with a favorable outcome. 相似文献
98.
B. P. Kavanagh MB BSc Dr A. N. Sandler MB MSc K. E. Turner MD V. Wick BScN S. Lawson 《Journal of clinical monitoring and computing》1992,8(3):226-230
This study was designed to assess the accuracy of end-tidalPco 2 and transcutaneousPco 2 as measurements of arterialPco 2 in extubated, spontaneously breathing patients recovering from general anesthesia. In 30 patients, measurement of arterial transcutaneous, and end-tidalPco 2 were taken simultaneously with body temperature approximately every 15 minutes over a 2-hour period. ArterialPco 2 values were corrected for body temperature. Values for Paco 2 were compared with those forPetCO2 and Psco 2 by linear regression analysis and by calculation of bias ± precision. Thirty-six percent of the capnogram tracings obtained did not develop a plateau phase. We found poor correlation between end-tidal and arterialPco 2 regardless of the shape of the capnogram tracing, as well as poor correlation between transcutaneous and arterialPco 2. Although the measurements of bias and precision of noninvasivePco 2 monitors in this population are comparable to studies in other populations, we advise caution in relying on the routine use ofPetCO2 or Psco 2 for the noninvasive assessment of respiratory depression in extubated, spontaneously breathing patients recovering from general anesthesia. 相似文献
99.
Federico L. Ampil 《Journal of neuro-oncology》1989,7(2):129-136
To determine the value of the usually given urgent palliative radiotherapy in paraplegic patients with epidural compression from metastatic tumor, 20 consecutive cases treated between 1981 and 1986 were retrospectively analyzed. Bronchogenic and prostatic carcinoma were the more common extraspinal sources of metastasis. Epidural metastasis involved the thoracic spine in most cases. The onset of neurological symptomatology was frequently within two weeks prior to hospitalization. The majority of the subjects received at least 3000 cGy given in 10 to 15 fractions. Symptomatic (pain relief) response rate was 78 (7/9) percent. The observed period of survival averaged 2.5 months after treatment. This study reaffirmed the little chance for recovery of lost limb(s) motor function. None of the patients (most of whom were paraplegic from two to 90 days pre-irradiation) became ambulatory including the two in whom irradiation was administered within 24 hours from the onset of paraplegia. 相似文献
100.
MVP, a Methanococcus jannaschii voltage-gated potassium channel, was cloned and shown to operate in eukaryotic and prokaryotic cells. Like pacemaker channels, MVP opens on hyperpolarization using S4 voltage sensors like those in classical channels activated by depolarization. The MVP S4 span resembles classical sensors in sequence, charge, topology and movement, traveling inward on hyperpolarization and outward on depolarization (via canaliculi in the protein that bring the extracellular and internal solutions into proximity across a short barrier). Thus, MVP opens with sensors inward indicating a reversal of S4 position and pore state compared to classical channels. Homologous channels in mammals and plants are expected to function similarly. 相似文献