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101.
Mazzanti L Cacciari E Cicognani A Bergamaschi R Scarano E Forabosco A 《American journal of medical genetics. Part A》2003,(3):279-286
We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair". 相似文献
102.
Clinical,immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study 总被引:5,自引:0,他引:5
Plebani A Soresina A Rondelli R Amato GM Azzari C Cardinale F Cazzola G Consolini R De Mattia D Dell'Erba G Duse M Fiorini M Martino S Martire B Masi M Monafo V Moschese V Notarangelo LD Orlandi P Panei P Pession A Pietrogrande MC Pignata C Quinti I Ragno V Rossi P Sciotto A Stabile A;Italian Pediatric Group for XLA-AIEOP 《Clinical immunology (Orlando, Fla.)》2002,104(3):221-230
A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG. 相似文献
103.
Frdric Vly Sylvain Olivero Lucia Olcese Alessandro Moretta Jacqueline E. Damen Ling Liu Gerald Krystal John C. Cambier Marc Daëron Eric Vivier 《European journal of immunology》1997,27(8):1994-2000
A novel family of inhibitory co-receptors has been recently defined according to the presence in their intracytoplasmic domain of immunoreceptor tyrosine-based inhibition motifs (ITIM). In particular, this family includes a low-affinity receptor for IgG, FcγRIIB, which is widely expressed on hematopoietic cells, as well as killer cell inhibitory receptors (KIR) for major histocompatibility complex (MHC) class I proteins, expressed on both T and natural killer (NK) lymphocytes. FcγRIIB and KIR inhibitory function depends upon the tyrosine phosphorylation of their respective ITIM. Phosphorylated FcγRIIB and KIR ITIM bind the tandem SH2 tyrosine phosphatases, SHP-1 and SHP-2. Recently, FcγRIIB has been shown to associate with a polyphosphate inositol 5-phosphatase, SHIP, which appears to be involved in its inhibitory function. Using cell lysate adsorption to phosphorylated ITIM peptides and surface plasmon resonance, we demonstrate here that, in contrast to FcγRIIB, KIR (CD158b: p58.2) do not bind to SHIP, and only recruit SHP-1 and SHP-2. In addition, we show that point mutation of the amino acid residue in position tyrosine-2 of FcγRIIB and KIR ITIM abolihes their binding to SHP-1 and SHP-2, but leaves intact the association of SHIP with FcγRIIB ITIM. These data contribute to the structural definition of ITIM and document a differential recruitment of phosphatases by distinct ITIM. These findings also reveal that diverse strategies of inhibition are used by distinct members of the ITIM-bearing co-receptor family. 相似文献
104.
Làdavas E Farnè A Zeloni G di Pellegrino G 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2000,131(4):458-467
Previous findings have demonstrated the existence of a visual peripersonal space centered on the hand in humans and its modulatory effects on tactile perception. A strong modulatory effect of vision on touch perception was found when a visual stimulus was presented near the hand. In contrast, when the visual stimulus was presented far from the hand, only a weak modulatory effect was found. The aim of the present study was to verify whether such cross-modal links between touch and vision in the peripersonal space centered on the hand could be mediated by proprioceptive signals specifying the current hand positions or if they directly reflect an interaction between two sensory modalities, i.e., vision and touch. To this aim, cross-modal effects were studied in two different experiments: one in which patients could see their hands and one in which vision of their hands was prevented. The results showed strong modulatory effects of vision on touch perception when the visual stimulus was presented near the seen hand and only mild effects when the vision of the hand was prevented. These findings are explained by referring to the activity of bimodal neurons in premotor and parietal cortex of macaque, which have tactile receptive fields on the hand, and corresponding visual receptive fields in the space immediately adjacent to the tactile fields. One important feature of these bimodal neurons is that their responsiveness to visual stimuli delivered near the body part is reduced or even extinguished when the view of the body part is prevented. This implies that, at least for the hand, the vision of the hand is crucial for determining the spatial mapping between vision and touch that takes place in the peripersonal space. In contrast, the proprioceptive signals specifying the current hand position in space do not seem to be relevant in determining the cross-modal interaction between vision and touch. 相似文献
105.
106.
Serretti A Lorenzi C Mandelli L Cichon S Schumacher J Nöthen MM Rietschel M Tullius M Ohlraun S 《Neuroscience letters》2004,368(3):269-273
We previously reported an association of DRD4 exon 3 long alleles with delusional symptomatology, independently from psychiatric diagnoses [Am. J. Med. Genet. 105 (2001) 283; Psychiatry Res. 80 (1998) 129]. The aim of this investigation was to replicate these results in an independent sample from Germany. We studied 394 subjects, affected by bipolar disorder (n = 32), schizoaffective disorder (n = 45), and schizophrenia (n = 317). All affected subjects were evaluated using the Operational Criteria for Psychotic Illness (OPCRIT) checklist. DRD4 variants were not associated with symptomatology of major psychosis. Our present results, obtained in an independent German sample, did not confirm the association between DRD4 variants and delusional symptomatology. However it should be considered that the original sample included a much higher rate of mood disorders and this could partially explain the discrepancy. 相似文献
107.
The Simon effect has been previously shown to be asymmetric at both the behavioral and electrophysiological levels. The present investigation was aimed to clarify whether, during a Simon task, hemispheric asymmetry is also observed in the early phases of stimulus processing. In a group of healthy subjects performing the Simon task, we analyzed scalp potentials evoked by the first lateralized cue (left or right), instead of the classical readiness potential preceding the motor response. ERP results showed a significant left cortical activation to stimuli presented in the right visual field at the 140–160 ms time window. Instead, left stimuli elicited a significant activation of the right versus left hemisphere starting at the next 160–180 ms time interval. We linked this asymmetry to that observed in behavioral data: the Simon effect recorded with left stimuli is smaller than the Simon effect recorded with right stimuli. Results confirm the hypothesis that in right handed subjects, left hemisphere is specialized for motor response selection and is able to process right stimuli faster than the right hemisphere does for left stimuli. 相似文献
108.
Chiara Merlino Massimiliano Bergallo Giorgio Gribaudo Gabriella Gregori Giuseppe Paolo Segoloni Franca Giacchino Alessandro Negro Ponzi Rossana Cavallo 《Journal of clinical virology》2003,28(3):265-274
BACKGROUND: Several studies have disclosed a correlation between polyomavirus BK (BKV) and interstitial nephritis in renal transplant recipients and its quantification in urine and serum is therefore required to assess the role of BKV infection in nephropathy. OBJECTIVE: This paper describes a urine and serum BKV-DNA quantification protocol devised to evaluate the viral load. STUDY DESIGN: Screening of samples containing > or =10(3)/ml viral genome copies by a semi-quantitative polymerase chain reaction (PCR) assay is followed by precise quantification of the samples containing a high number of viral genomes in a quantitative-competitive (QC)-PCR assay. Generation of the competitor construct relied on the different sizes of wild-type and competitor amplicons. RESULTS AND CONCLUSIONS: Screening by semi-quantitative PCR selects samples with a high number of viral genomes for use in the more labor-intensive and -expensive QC-PCR assay and thus provides a handy means for quantitative DNA analysis of large numbers of samples. The results obtained in BKV-DNA quantification in urine and serum samples from 51 renal transplant recipients (22 on treatment with tacrolimus (FK506) and 29 on cyclosporine A (Cy A)) are interesting: BKV-DNA findings (43.1%) in urine samples are in agreement with the BKV urinary shedding reported in literature (5-45%). With regard to immunosuppressive treatment, the percentage of activation of the infection (revealed by BKV-DNA detection in urine samples) in the two groups of therapy is similar (40.9% vs 44.8%). The observation that the viral load in urine is dissociated with that of serum suggests that both parameters should be investigated in evaluation of the pathogenetic role of BKV reactivation in renal transplant recipients. Moreover, our BKV-DNA quantification protocol could be used to monitor viral load in urine and serum samples from renal transplant recipients so as to detect those at risk of nephropathy and monitor their response to immunosuppression reduction therapy if it occurs. 相似文献
109.
Bernard Tandler Carlin A. Pinkstaff Alessandro Riva 《Anatomical record (Hoboken, N.J. : 2007)》1994,240(2):167-177
Background: Speciamens of human anterior lingual salivary glans obtained by surgery and by dissection of cadavers were studied ultrastructurally and histochemically. Methods: Specimens were obtained by surgery for ultrastructural study. Other specimens for histochemistry were obtained by dissection of fresh cadavers. Tissues for electron microscopy were fixed and processed by conventional mesns. Formalin-fixed cadaver specimens were subjected to a battery of tests for glycoconjugates. Results: The anterior lingual salivary glands are composed predominantly of mucous tubules (which come in two distinct sizes: large and small), seromucous demilunes, and rare seromucous acini. Regardless of tubule size, mucous cells are typically in appearance and, like mucous cells in other human salivary glands, contain filamentous bodies. Histochemically, the larger tubules contain neutral glycoproteins, low concentrations of sialoglycoproteins, and large amounts of sulfated glycoproteins. The small mucous tubules contain neutral glycoproteins, much sialoglycoprotein, and relatively small amounts of sulfated glycoprotein. The seromucous cells, whether demilunar or acinar, are identical. They contain numerous secretory granules, which show a spectrum of internal patterns from one individual to another. These cells have considerable concentrations of neutral- and sialoglycoproteins and lower concentrations of sulfated gly-coproteins. Countrary to previously published reports, we could find no differences in the ratio of mucous to seromucous cells along the anteriorposterior lingual axis: there was no gradient of seromucous cells in our specimens. The ducts in the anterior lingual salivary glands are not precise counterparts of those in the major salivary glands, since the former have no capsules, hence lack lobulation. Without these familiar structural landmarks, the only duct that can be identified with certainty is the intercalated duct, and then only if it is in continuity with or lies close to a secretory endpiece. Such ducts consist of simple cuboidal epithelium of prosaic appearance. The ductular epithelium gradually thickens and gives rise to what appear to be excretory ducts consisting of columnar cells with few mitochondria. Scattered within the walls of the walls of the larger ducts are patches of typical striated ducts wherein the taller cells display basal striations resulting from highly folded basal plasma membranes and numerous, vertically oriented, virgulate mitochondria. In other atypical regions of the excretory duct, basal cells may have a primary cilium that juts into the intercellular space. Conclusions: There is a high degree of structural variability in human anterior lingual salivary glands. Because of the technical difficulties in collecting pristine saliva from these glands, the precise functions(s) of these organs remains unknown. © 1994 Wiley-Liss, Inc. 相似文献
110.
Molecular and Cellular Analysis of Human T Lymphocytes Expressing γδ T-Cell Receptor 总被引:1,自引:0,他引:1