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A case of Rubinstein‐Taybi syndrome associated with growth hormone deficiency in childhood 下载免费PDF全文
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Ennio Del Giudice Maria Cristina Bianchi Michela Tosetti Andrea Varrone Alfonso Romano Angela Francesca Crisanti Luigi Titomanlio Floriana Imperati 《Epileptic Disord》2006,8(4):289-293
Patients with Taylor-type focal cortical dysplasia (TTFCD) generally present with medically intractable epilepsy and impaired neurological and/or intellectual functioning. Surgery usually proves to be the only treatment approach leading to control of seizures. We describe a 17-year-old girl with TTFCD who exhibited a very long period of seizure remission. Combined clinical and neuroimaging findings were compatible with a diagnosis of a balloon cell-subtype TTFCD. As for the clinical course, partial motor seizures began at one year of age and ceased at five: our patient has had no seizure recurrence over a 12-year-follow-up. Moreover, throughout the 15-year follow-up, neurological examinations and cognitive abilities always remained within normal limits. Neuropsychological assessment clearly showed no impairments in executive functions: planning abilities, working memory, attention and impulse control, or constructive aspects of motor coordination. The predominant deficits pertained to verbal abilities in the context of borderline intellectual performances. To our knowledge, this case report documents the longest duration of seizure remission in a patient with TTFCD, thus emphasizing the possible benign course of such dysplastic lesions which usually have a poor prognosis, leading to early surgical treatment. 相似文献
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A Sgalambro A Marras F Lombardi C Guasconi G Schiavone G Sportelli S Del Giudice C Marinoni 《Giornale italiano di cardiologia》1987,17(8):667-672
Tricuspid regurgitation (TR) is detected by Doppler echocardiography in a high proportion of patients with right ventricle pressure or volume overload. Continuous wave Doppler (CW) provides a noninvasive estimation of the transtricuspid systolic pressure gradient, applying the modified Bernoulli formula to the maximum velocity of the TR jet. The purpose of this study was to test the accuracy of the CW prediction of systolic right ventricular pressure (RVPs), obtained adding a clinical estimate of the mean right atrial pressure (RAPm) to the Doppler derived pressure gradient. The study population consisted of 22 adult patients with Doppler proved TR, undergoing right heart catheterization (cath) for mitral valve disease (12 pts), atrial septal defect (8 pts), dilated cardiomyopathy (1 pt) or pulmonary hypertension (1 pt). Two studies were duplicated after nifedipine administration. TR was graded by pulsed Doppler flow mapping as mild in 7, moderate in 11, severe in 4 pts. RAPm was estimated clinically from the inspection of neck veins pulsatility (mmHg = pulsatility cm+5/1.3). At CATH RVPs ranged from 27 to 80 (46 +/- 17) mmHg, RAPm from 0 to 13 (6 +/- 3) mmHg. RVPs Doppler prediction showed a close correlation with CATH (r .97, SEE 4.2 mmHg), with a slight mean underestimation (-2 +/- 4 mmHg) (Fig. 3, Tab. I). The discrepancies between CW and CATH ranged from -9 to +10 mmHg, almost entirely due to inaccuracy of the RAPm clinical estimate (r .48, see 3.8 mmHg) (Fig. 4, Tab. I).(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
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A Ioli D Forino L Lo Giudice A Staiti R Dollenz M Allegra G Magaraci P Bramanti 《Acta neurologica》1992,14(3):215-219
The AA. refer on the first Italian case of amoebae "Limax" primitive myelitis in a 25-year-old man. Microscopical observation showed amoebae free-living, but their cultivation and identification were not possible. The patient recovered because of the propriety of diagnosis and therapy with amphotericin B. 相似文献
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Titomanlio L Romano A Conti A Genesio R Salerno M De Brasi D Nitsch L Del Giudice E 《American journal of medical genetics. Part A》2004,(2):197-200
Wolf-Hirschhorn syndrome (WHS) is caused by a variably-sized deletion of chromosome 4 involving band 4p16 whose typical craniofacial features are "Greek warrior helmet appearance" of the nose, microcephaly, and prominent glabella. Almost all patients show mental retardation and pre- and post-natal growth delay. Patient was born at term, after a pregnancy characterized by intra-uterine growth retardation (IUGR). Delivery was uneventful. Developmental delay was evident since the first months of life. At 2 years, he developed generalized tonic-clonic seizures. Because of short stature, low growth velocity and delayed bone age, at 4 years he underwent growth hormone (GH) evaluation. Peak GH after two provocative tests revealed a partial GH deficiency. Clinical observation at 7 years disclosed a distinctive facial appearance, with microcephaly, prominent eyes, and beaked nose. Brain MRI showed left temporal mesial sclerosis. GTG banded karyotype was normal. Because of mental retardation, subtelomeric fluorescence in situ hybridization (FISH) analysis was performed, disclosing a relatively large deletion involving 4p16.2 --> pter (about 4.5 Mb), in the proband, not present in the parents. The smallest deletion detected in a WHS patient thus far includes two candidate genes, WHSC1 and WHSC2. Interestingly, that patient did not show shortness of stature, and that could be due to the haploinsufficiency of other genes localized in the flanking regions. Contribution of GH alterations and possible GH therapy should be further considered in WHS patients. 相似文献