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31.
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 总被引:6,自引:7,他引:6
Roepman R; van Duijnhoven G; Rosenberg T; Pinckers AJ; Bleeker-Wagemakers LM; Bergen AA; Post J; Beck A; Reinhardt R; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(7):1035-1041
The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-
linked RP (XLRP), has been mapped previously to a chromosome interval of
less than 1000 kbp between the DXS1110 marker and the OTC locus at
Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization
(YRH)', we have recently identified a small XLRP associated microdeletion
in this interval, as well as several putative exons including the 3' end of
a gene that was truncated by the deletion. cDNA library screening and
sequencing of a cosmid centromeric to the deletion has now enabled us to
identify numerous additional exons and to detect several point mutations in
patients with XLRP. The predicted gene product shows homology to RCC1, the
guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our
findings suggest that we have cloned the long-sought RP3 gene, and that it
may encode the GEF of a retina-specific GTP-binding protein.
相似文献
32.
Kerr EH Hameed O Lewis JS Bartolucci AA Wang D Said-Al-Naief N 《International journal of surgical pathology》2012,20(1):37-46
Unlike their cutaneous counterparts, head and neck mucosal malignant melanomas (HNMM) behave much more aggressively and their prognostic markers have not been fully elucidated. Therefore, the aim of this study was to review the clinicopathologic features of a contemporary series of primary HNMM, retrieved from archival material of 2 large medical centers, and to explore the association, if any, between these variables, the clinical features, and outcomes. The clinicopathologic, radiographic, and follow-up information as well as the dominant histologic pattern, mitotic rate, presence/absence of pigmentation, necrosis, ulceration, vascular invasion, and host-associated lymphocytic response were retrieved and recorded. Twenty cases were identified including 1 melanoma in situ. Eight-five percent of tumors arose in the sinonasal tract and 3 (15%) in the oral cavity. After a median follow-up of 25 months, all patients with invasive melanoma developed recurrence and/or metastasis. Local recurrences occurred in 82% of the patients after a median of 12 months, and distant metastasis occurred in 71% of the patients after a median of 13 months. Of those with adequate follow-up, 82% died with disease, and the remaining 3 had recurrent or metastatic disease. Fourth-seven percent of tumors were pigmented, 89% showed at least focal necrosis, and 93% demonstrated ulceration. Sixth-eight percent showed vascular invasion and 63% had a brisk host lymphocytic response. Mitotic rates ranged from 2 to 60/10 high-power fields. The absence of an invasive component might be associated with a better prognosis but other clinical and pathological features that predict outcome, and/or could influence therapy, remain to be determined in HNMM. 相似文献
33.
34.
Maria Lavinia Bartolucci Ida Marini Francesco Bortolotti Daniela Impellizzeri Rosanna Di Paola Giuseppe Bruschetta Rosalia Crupi Marco Portelli Angela Militi Giacomo Oteri Emanuela Esposito Salvatore Cuzzocrea 《Inflammation research》2018,67(10):891-901
Objective and design
Temporomandibular disorder (TMD) is a common painful condition in the temporomandibular joint (TMJ). Joint inflammation is believed to be a chief cause of pain in patients with TMD, through the release of pro-inflammatory cytokines that induce peripheral sensitization of nerve terminals followed by microglial stimulation.Materials and subject
TMJ was induced in rats with the injection of complete Freund’s adjuvant (CFA) emulsion into the left TMJ capsule.Treatment
The present study would assess the effects of micronized palmitoylethanolamide (m-PEA) on glial activation and trigeminal hypersensitivity.Methods
Ten mg/kg m-PEA or corresponding vehicle was administered 1 h after CFA and mechanical allodynia and edema were evaluated at 24 and 72 h after CFA injection.Results
CFA-injected animals showed TMJ edema and ipsilateral mechanical allodynia accompanied by a robust growth in GFAP protein-positive satellite glial cells and activation of resident macrophages in the TG. Moreover, m-PEA administration significantly reduced the degree of TMJ damage and pain, macrophage activation in TG and up-regulation of Iba1.Conclusions
The results confirm that m-PEA could represent a novel approach for monitoring pain during trigeminal nerve sensitization.35.
Background
Hydrocele is abnormal collection of serous fluid in the tunica vaginalis or a patent processus vaginalis. It is commonly encountered in our practice and often requires surgical treatment. However in our setting and in many underdeveloped countries, availability of general anaesthetic service is poor due to lack of trained personnel and equipment.Objectives
To ascertain the practicability and acceptability of hydrocelectomy under sedation and local anaesthesia in Nigerian adults with hydrocelePatients and Methods
A prospective study was carried out over a two year period on patients that had hydrocelectomy at the surgery unit of the Obafemi Awolowo University Teaching Hospitals Complex, Wesley Guild Hospital, Ilesa. Consecutive patients with diagnosis of hydrocele who consented had hydrocelectomy using intramuscular diazepam sedation and spermatic-cord block with 0.5% plane xylocaine and the scrotum infiltrated with same along the line of incision.Results
Fifty adult patients were studied: age range 15–94 years. Eighty percent of the patients had unilateral hydrocele and the commonest type was vaginal hydrocele (94%). All patients had hydrocelectomy, 96% were under local anaesthesia while 4% were converted to general anaesthesia. All patients except one prefer to have future surgery under such local anaesthesia and sedation.Conclusion
Hydrocelectomy under local anaesthesia and sedation is practicable and was tolerated and accepted by the adults patients studied. 相似文献36.
I. Marini M. R. Gatto M. L. Bartolucci F. Bortolotti G. Alessandri Bonetti A. Michelotti 《Journal of oral rehabilitation》2013,40(7):509-518
In recent years, there has been increasing interest in the relationship between dental occlusion and body posture both among people and in scientific literature. The aim of the present longitudinal study is to investigate the effects of an experimental occlusal interference on body posture by means of a force platform and an optoelectronic stereophotogrammetric analysis. An occlusal interference of a 0‐ to 2‐mm‐thick glass composite was prepared to disturb the intercuspal position while not creating interference during lateral or protrusive mandibular excursions. Frontal and sagittal kinematic parameters, dynamic gait measurements and superficial electromyographic (SEMG) activity of head and neck muscles were performed on 12 healthy subjects. Measurements were taken 10 days before the application of the occlusal interference, and then immediately before the application, the day after it, and at a distance of 7 and 14 days under four different exteroceptive conditions. The outcomes of this study show that an occlusal interference does not modify significantly over time static and dynamic parameters of body posture under different exteroceptive conditions. It has a minimal influence only on the frontal kinematic parameters related to mandibular position, and it induces a transient increase of the activity of masticatory muscles. In this study, the experimental occlusal interference did not significantly influence the body posture during a 14‐day follow‐up period. 相似文献
37.
Scapellato ML Mastrangelo G Fedeli U Carrieri M Maccà I Scoizzato L Bartolucci GB 《Neurotoxicology》2008,29(1):116-123
There is conflicting evidence on the level of anesthetics that impairs neurobehavioral performance, leading to differences in exposure standards (25 or 50 ppm for N(2)O). Thirty-eight operating room nurses and 23 unexposed nurses were asked to provide information on confounding variables: age, gender, years of schooling, alcohol and coffee consumption, smoking, length of work, symptoms (Euroquest) and results of Block Design test. Afterward, all workers were repeatedly examined (on Monday and Friday of a working week, before and after workshift) for stress and arousal (Mood Scale) and complex reaction times (Color Word Vigilance, CWV), the latter being the outcome. Individual exposure was assessed through urinary end-shift concentrations of nitrous oxide (N(2)O) and isoflurane. According to the highest value of urinary excretion of N(2)O in the week, exposed workers were subdivided in three groups (<13; > or =13 and <27; and > or = 27 microg/l). The values of 13 and 27 microg/l correspond to environmental concentrations of 25 and 50 ppm, respectively. In order to take into account the pre-existing abilities of exposed and reference workers, and investigate the neurobehavioral changes over time, longitudinal data were analyzed by a two-stage regression model and analysis of variance for repeated measures (MANOVA). The former method, controlling for confounding factors and Monday morning CWV (which conveyed the pre-existing ability of the subjects), showed that, with respect to unexposed nurses, reaction times were significantly (p<0.020) higher only in workers with urinary N(2)O> or = 27 microg/l. Therefore, at MANOVA, all subjects were categorized in two classes (N(2)O urinary concentrations or = 27 microg/l), and CWV results were adjusted for the confounding variables and effects of stress and arousal, taken concurrently with CWV. CWV significantly (p<0.039) decreased over a working week (indicating a learning effect) in workers with urinary N(2)O<27 microg/l, while remained steady (indicating impairment of neurobehavioral performance) in those with urinary N(2)O> 27 microg/l. 相似文献
38.
39.
Diagnosis of the thoracic outlet syndrome is often difficult, particularly in patients without osseous abnormalities on plain radiographs. The radiographic and computed tomographic (CT) findings were reviewed from 27 patients with thoracic outlet syndrome and 21 normal subjects. The plain radiographs and CT scans were assessed by two independent observers without awareness of the clinical history. Fifteen patients with thoracic outlet syndrome had osseous abnormalities (anomalous cervical ribs; abnormally long, drooping C-7 transverse processes) identifiable on plain radiographs. CT did not provide further diagnostic information in the patients with abnormal radiographs. Eight of 12 patients (66%) with normal plain radiographs had abnormal findings on CT scans, consisting of impingement of the C-7 transverse process on the scalene triangle or anteromedial aspect of the middle scalene muscle. Only two of 21 control patients (9.5%) displayed this CT abnormality (P less than .01). CT may be useful in patients with symptoms suggestive of thoracic outlet syndrome and no osseous abnormalities on plain radiographs. 相似文献
40.