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81.
E D'Alessandro V Santiemma M L Lo Re C Ligas G Del Porto 《American journal of medical genetics》1992,44(2):220-222
A woman with a history of recurrent abortions, idiopathic hypoprolactinemia, and an apparent 6p partial deletion mosaicism is described. The breakpoint in the short arm of chromosome 6 was in the p23 region. This deletion could have been caused by a fragile site in 6p23. 相似文献
82.
Minelli A Maserati E Giudici G Tosi S Olivieri C Bonvini L De Filippi P Biondi A Lo Curto F Pasquali F Danesino C 《Cancer Genetics and Cytogenetics》2001,124(2):147-151
Two sisters are reported, both with a myelodysplastic syndrome (MDS) associated with partial monosomy 7. A trisomy 8 was also present in one of them, who later developed an acute myeloid leukemia (AML) of the M0 FAB-type and died, whereas the other died with no evolution into AML. Besides FISH studies, microsatellite analysis was performed on both sisters to gather information on the parental origin of the chromosome 7 involved in partial monosomy and of the extra chromosome 8. The chromosomes 7 involved were of different parental origin in the two sisters, thus confirming that familial monosomy 7 is not explained by a germ-line mutation of a putative tumor-suppressor gene. Similar results were obtained in two other families out of the 12 reported in the literature. Noteworthy is the association with a mendelian disease in 3 out of 12 monosomy 7 families, which suggest that a mutator gene, capable of inducing both karyotype instability and a mendelian disorder, might act to induce chromosome 7 anomalies in the marrow. We postulate that, in fact, an inherited mutation in any of a group of mutator genes causes familial monosomy 7 also in the absence of a recognized mendelian disease, and that marrow chromosome 7 anomalies, in turn, lead to MDS/AML. 相似文献
83.
Guiding the hand that feeds. Caring for the demented elderly 总被引:3,自引:0,他引:3
84.
An adult patient presented with vesicular rash and abdominal pain of 5 days duration. His initial laboratory results showed elevated liver enzymes. A contrast enhanced CT scan demonstrated multiple small hypodense nodules in liver and spleen. His serum was reactive for Varicella Zoster IgM. Patient was treated with intravenous Acyclovir for 5 days and followed up with oral tablets for 2 weeks. At 3 weeks, CT scan showed resolution of hypodense nodules and his serum liver enzymes returned to normal at 6 weeks. Patient is on follow up and asymptomatic for 2 years. The CT appearances of nodules and their resolution following specific antiviral therapy are useful in diagnosis and in follow up of disseminated Varicella Zoster. 相似文献
85.
M Ferrari S Tardivo M E Zanolin M Olivieri G Lampronti C Biasin A Poli F Balestreri R de Marco V Lo Cascio 《Annals of allergy, asthma & immunology》1999,83(5):391-396
BACKGROUND: A number of epidemiologic studies have tried to establish whether respiratory tract infections in early childhood cause obstructive pulmonary disease in adult life. OBJECTIVE: To determine whether reported serious respiratory infection before the age of 5 years (SRI) is a significant risk factor for subsequent development of bronchial asthma and/or bronchial hyperresponsiveness in adults. METHODS: We investigated a random population sample of 1,104 subjects (aged 20 to 40 years), participating in the European Respiratory Health Survey in Italy. Bronchial response to methacholine and answers to a standardized questionnaire were analyzed. RESULTS: The prevalence of SRI (ie, a positive response to the question "Have you ever had a serious respiratory infection before the age of 5 years?") was significantly higher in the subjects with a positive family history of allergic diseases than in those with a negative one (O.R. 1.89; 95% C.I. 1.24 to 2.87, P < .01). No relationship was found between SRI and current adult asthma; however, asthma in the past was found in 20.5% of the SRI positive subjects and in 9.1% of SRI negative subjects (O.R. 2.47; 95% C.I. 1.47 to 4.15, P < .05). No difference in the response to methacholine and in FEV1, FEV1/FVC values was found between SRI positive and SRI negative subjects. CONCLUSIONS: We suggest that a positive family history of atopy is associated with a significantly higher prevalence of SRI. Furthermore our results indicate that exposure to SRI is a risk factor for asthma in the past (ie, asthma in childhood and adolescence) but not for adult asthma or for the development of bronchial impairment in adult life. 相似文献
86.
Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest 总被引:5,自引:0,他引:5
Waller BR McQuinn T Phelps AL Markwald RR Lo CW Thompson RP Wessels A 《The Anatomical record》2000,260(3):279-293
The trisomy 16 (Ts16) mouse is generally considered a model for human Down's syndrome (trisomy 21). However, many of the cardiac defects in the Ts16 mouse do not reflect the heart malformations seen in patients suffering from this chromosomal disorder. In this study we describe the conotruncal malformations in mice with trisomy 16. The development of the outflow tract was immunohistochemically studied in serially sectioned hearts from 34 normal and 26 Ts16 mouse embryos ranging from 8.5 to 14.5 embryonic days. Conotruncal malformations observed in the Ts 16 embryos included double outlet right ventricle, persistent truncus arteriosus, Tetralogy of Fallot, and right-sided aortic arch. This spectrum of malformations is remarkably similar to that seen in humans suffering from DiGeorge syndrome (DGS). As perturbation of neural crest development has been proposed in the pathogenesis of DGS we specifically focussed on the fate of neural crest derived cells during outflow tract development of the Ts16 mouse using an antibody that enabled us to trace these cells during development. Severe perturbation of the neural crest-derived cell population was observed in each trisomic specimen. The abnormalities pertained to: 1) the size of the columns of neural crest-derived cells (or prongs); 2) the spatial orientation of these prongs within the mesenchymal tissues of the outflow tract; and 3) the location in which the neural crest cells interact with the myocardium. The latter abnormality appeared to be responsible for ectopic myocardialization found in trisomic embryos. Our observations strongly suggest that abnormal neural crest cell behavior is involved in the pathogenesis of the conotruncal malformations in the Ts16 mouse. 相似文献
87.
De Filippis LG Caliri A Lo Gullo R Bartolone S Miceli G Cannavò SP Borgia F Basile G Aloisi G Zimbaro G Scribano E Bagnato GF 《International journal of tissue reactions》2005,27(4):159-162
The aim of the present study was to detect entheseal abnormalities by means of ultrasonography (US) in patients with psoriasis. We evaluated 24 patients with psoriasis who underwent clinical and ultrasonographic examination of both lower limbs at the calcaneal insertions of the Achilles tendons and at the flexor and extensor tendons of all fingers of the hand. Fourteen patients with psoriatic arthritis were used as controls. US was performed using a real-time scanner (ATL SDI 3000) with a 5-12 MHz linear array transducer. Longitudinal and transverse scans of the talocrural joints, Achilles tendons and both the flexor and extensor tendons of the fingers of both hands were obtained at rest and during active and passive movements. On clinical examination no entheseal site was abnormal, but on US examination 33% of patients showed abnormalities. In particular, six psoriasis patients (25%) who were asymptomatic showed effusion around the extensor tendon of the first digit of the left hand and around the extensor tendon of the third and fourth digits of both hands; two patients (8.3%) showed a hypoechoic nodular formation of the flexor tendon sheath of the left hand. We conclude that entheseal abnormalities not detected at clinical examination were present in 33% of patients with psoriasis who underwent US examination. Therefore, we suggest the routine use of ultrasonography in the early diagnosis and in treatment and follow-up of patients with tendon enthesopathy, since these factors may have implications for therapy. 相似文献
88.
Intracellular pathogens, particularly those that target host mononuclear phagocytes, have evolved strategies to either evade or inhibit cellular mechanisms of host defense. Mycobacterium tuberculosis and Leishmania donovani exemplify a diverse group of microorganisms that have developed the ability to invade and replicate within host macrophages, leading to disease expression. Recent studies have suggested that the pathogenesis of intracellular infection may involve interference with host cell signaling. Drawing upon examples from in vitro models that focused on M. tuberculosis and L. donovani, we review evidence that activation of host cell phosphotyrosine phosphatases may contribute to pathogenesis. A leading candidate appears to be the Src homology 2 domain containing phosphotyrosine phosphatase SHP-1, the activation of which may contribute to the development of infection and disease progression. 相似文献
89.
Philippe A. Puech Loïc Boussel Samir Belfkih Laurent Lemaitre Philippe Douek Régis Beuscart 《Journal of digital imaging》2007,20(2):122-130
DicomWorks is freeware software for reading and working on medical images [digital imaging and communication in medicine (DICOM)].
It was jointly developed by two research laboratories, with the feedback of more than 35,000 registered users throughout the
world who provided information to guide its development. We detail their occupations (50% radiologists, 20% engineers, 9%
medical physicists, 7% cardiologists, 6% neurologists, and 8% others), geographic origins, and main interests in the software.
The viewer’s interface is similar to that of a picture archiving and communication system viewing station. It provides basic
but efficient tools for opening DICOM images and reviewing and exporting them to teaching files or digital presentations.
E-mail, FTP, or DICOM protocols are supported for transmitting images through a local network or the Internet. Thanks to its
wide compatibility, a localized (15 languages) and user-friendly interface, and its opened architecture, DicomWorks helps
quick development of non proprietary, low-cost image review or teleradiology solutions in developed and emerging countries. 相似文献
90.
Sylvie Degermann Christina Reilly Bernadette Scott Lynn Ogata Harald Von Boehmer David Lo 《European journal of immunology》1994,24(12):3155-3160
Autoimmune (type 1) diabetes mellitus in mouse, rat, and humans shares several features, including T lymphocyte infiltration into pancreatic islets and a dependence on permissive class II major histocompatibility complex (MHC) alleles. We report here on an experimental model involving mice that express influenza hemagglutinin (HA) under the control of the insulin promoter and, at the same time, a transgenic class II MHC-restricted T cell receptor (TcR) specific for an HA peptide. These mice spontaneously develop islet infiltrates resembling those found in NOD mice and most animals become diabetic within 8 weeks of age. Because of the availability of a clonotypic TcR antibody, we can be confident that the Ins-HA transgene does not induce any measurable alterations in the vast majority of T cells with the transgenic TcR in primary and secondary lymphoid organs. Continuous export of large numbers of HA-specific lymphocytes from the thymus was not required for the manifestation of the disease since mice thymectomized at 3 days after birth still developed the disease albeit with smaller infiltrates. 相似文献