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F. Fabris I. Cordiano F. Salvan R. Ramon M. Valente G. Luzzatto A. Girolami 《European journal of haematology》1997,58(1):40-45
Abstract: We studied 47 subjects belonging to 13 unrelated families with a history of mild haemorrhagic diathesis and chronic thrombocytopenia. 36 patients presented some degree of thrombocytopenia: 7/36 (19%) had slight thrombocytopenia (100–150×109/L); 26/36 (72%) had mild thrombocytopenia (50–100×109/L) and 3/36 (8%) had severe thrombocytopenia (<50×109/L). No correlation was observed between platelet count and the degree of haemorrhagic diathesis, which was mild in the majority of patients. Transmission was autosomal dominant. Platelet anisocytosis, increased percentage of large platelets and absence of leukocyte inclusions were observed in 26/30 (87%) of the examined blood smears. The ultrastructural appearance of platelets was normal. Megakaryocytes appeared normal in number in 10/10 patients, but showed asynchronous nuclear-cytoplasm maturation and mainly nonlobulated nuclei. Platelet aggregation was studied in 26 patients and either increased or decreased curves were variably observed in response to different aggregating agents. Platelet-associated IgG (PAIgG) was increased in 18/31 (58%) patients, while serum autoantibodies against platelet glycoproteins Ib/IX or IIb/IIIa were demonstrable in only 1 case. An increased expression of platelet surface glycoproteins Ib and IIb/IIIa, as studied by murine monoclonal antibodies binding in 17 cases, was observed. Platelet survival performed by 111In-oxine-labelled autologous platelets was normal in the 3 studied patients. Congenital macrothrombocytopenia confirms to be a distinct clinical disorder for which the name of “chronic isolated hereditary macrothrombocytopenia” is proposed. 相似文献
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Role of transrectal ultrasonography in the evaluation of azoospermic men with low-volume ejaculate. 总被引:2,自引:0,他引:2
Gil Raviv Yoram Mor Jacob Levron Shai Shefi Dorit Zilberman Jacob Ramon Igal Madgar 《Journal of ultrasound in medicine》2006,25(7):825-829
OBJECTIVE: The purpose of this prospective study was to evaluate the incidence of distal ejaculatory system defects with transrectal ultrasonography (TRUS) among patients evaluated for azoospermia. METHODS: Forty-two patients with low-volume ejaculate and azoospermia were evaluated by physical examination, serum follicle-stimulating hormone and luteinizing hormone level determination, karyotyping, selective screening for cystic fibrosis mutations, and TRUS. RESULTS: On physical examination, in 29 patients (69%), either 1 (12 patients) or both (17 patients) of the vasa deferentia could not be palpated. In the group of 17 patients with bilateral involvement of the vasa deferentia, the ultrasonographic imaging universally showed bilateral absence or hypoplasia of the seminal vesicles with bilateral agenesis of the vasa deferentia and nonvisualization of both ejaculatory ducts. In the patients with a unilateral abnormality on physical examination, the ultrasonographic imaging showed absence of the ipsilateral seminal vesicle in 7 patients and the hypoplastic seminal vesicle in 5. In the group of 13 patients with normal physical examination findings, a variety of obstructive causes were diagnosed by TRUS examination. CONCLUSIONS: According to this study, TRUS appears to be a sensitive method for evaluating the anatomy of the distal ejaculatory system. Its safety and low costs make it a good alternative to the other invasive and expensive methods. 相似文献
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Juan M. Verdeguer M.D. Dolores Ramon M.D. Manuel Moragon M.D. Isabel Betlloch M.D. Esperanza Jorda M.D. M.D Victoria Planelles M.D. † 《Pediatric dermatology》1988,5(1):56-57
Abstract: Hydantoin is an anticonvulsant drug with several side effects. A teralogenic potential has been suggested. The fetal hydantoin syndrome is an entity that consists of a broad range of morphologic and developmental disorders in children born of epileptic mothers exposed to hydantoin during pregnancy. We treated a girl in whom onychopathy was a monosymptomatic or mild form of this syndrome. 相似文献
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This paper presents a method of improving the TLD-100 dose reassessment performance. This method consists of applying numerical analysis techniques for evaluating the TLD-100 phototransferred thermoluminescence (PTTL) glow curve. From this analysis, a simple procedure for estimating the ultraviolet background components usually present in phototransferred thermoluminescence (TL) signals has been established. This procedure has been implemented in a computer program which performs the automatic evaluation of the glow curves and extracts the dose information contained in the PTTL curves. The use of this computer-aided evaluational method has enabled the extension of the working range of estimated absorbed dose down to 0.2-0.5 mGy with very adequate operational quality for doses even below the conventionally admitted lower reestimation limit (approximately 2 mGy). Because TL readout is a destructive process, the ability to reestimate doses can be important in any kind of dosimetric activity, such as operational dosimetry programs. The other commonly used dosimeter, film, uses a nondestructive readout and, therefore, presents some advantages over TLD when dose reassessment is necessary. With the reported improvements in the TLD-100 dose reassessment performance, the full range of absorbed doses covered by film dosimetry can now be reliably reassessed using TLD-100 dosimeters. 相似文献
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We studied 12 non-demented PD patients in on state before and 3 months after posteroventral pallidotomy (PVP), in order to evaluate the effects of surgery upon an unconstrained, multijoint skilled movement as well as a single joint, repetitive, ballistic movement. A Selspot II System was used for three-dimensional data acquisition, processing and reconstruction of limb trajectories. Specific wrist kinematic features of spatial accuracy (linearity and planarity), temporal attributes (acceleration and velocity), spatiotemporal relationships (velocity-curvature coupling), and joint kinematic variables (relationships between wrist and elbow velocities and relative arm angle amplitudes) for each cycle of movement were graphically and numerically analysed. QMC was applied to single joint, repetitive, ballistic movements. QMC significantly improved after PVP (P < 0.0006). However, wrist as well as joint kinematic variables of the gestural movements failed to change significantly after PVP. The lack of improvement of the kinematic abnormalities of the gestural movement in PD patients would indicate that they are unrelated to the basic motor deficit; most likely they are the result of a disruption of a complex of sensorimotor integration processes due to abnormal parieto-frontal basal ganglia interaction. 相似文献
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