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排序方式: 共有7634条查询结果,搜索用时 15 毫秒
1.
Tear mucus crystallization in children with cystic fibrosis 总被引:1,自引:0,他引:1
M Rolando F Baldi G Calabria 《Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde》1988,197(4):202-206
Cystic fibrosis is characterized by an abnormally high electrolyte concentration in exocrine secretions. The authors performed the tear mucus ferning test in 26 eyes of children with cystic fibrosis and compared the results to those in an equal number of age-matched normals. The results suggest that the increased electrolyte concentration could be responsible for the increased hyperviscosity of mucus. The tear mucus ferning test appears to be a suitable diagnostic test for the assessment of cystic fibrosis. 相似文献
2.
3.
Esparza-Gordillo Jorge; Goicoechea de Jorge Elena; Buil Alfonso; Berges Luis Carreras; Lopez-Trascasa Margarita; Sanchez-Corral Pilar; Rodriguez de Cordoba Santiago 《Human molecular genetics》2005,14(8):1107
Some MCP SNP and aHUS-associated MCP mutation 相似文献
4.
Ruben A. Mesa MD Alfonso Quintás-Cardama MD Srdan Verstovsek MD PhD 《Current hematologic malignancy reports》2007,2(1):25-33
Myelofibrosis with myeloid metaplasia (MMM) is currently classified as a classic (ie, BCR-ABL-negative) myeloproliferative
disorder characterized by anemia, multiorgan extramedullary hematopoiesis, constitutional symptoms, and premature death from
either leukemic transformation or other disease complications. Stem cell transplantation can be curative, but many patients
either are not appropriate candidates or do not choose to accept the significant risks associated with transplantation. Current
pharmacologic therapy has been beneficial mainly in terms of palliating disease-associated cytopenias, constitutional symptoms,
splenomegaly, and other organ damage from excess myeloproliferation. Novel treatment strategies are under investigation, including
targeted inhibition of JAK2V617F, the activating tyrosine kinase point mutation present in about half of patients with MMM. In this article, we review both
the old and new pharmacologic options for MMM. 相似文献
5.
Jose M. Fernández-Cebrián Peter Vorwald Kuborn Mar Pardo de Lama Alfonso Sanjuanbenito Dehesa Manuel Nevado Santos Pedro A. Pacheco Martínez Beatriz Fernández-Escudero 《Clinical & translational oncology》2005,7(3):101-109
Colorectal cancer is one of the best studied of all malignant diseases interms of genetics and/or molecular prognostic factors. These factors, and relationships with prognosis, may have important implications especially in the design of surgical and adjuvant chemo-radiotherapy options. However, the true prognostic significance of all known factors has yet to be realised. We have reviewed the literature with specific focus on the role of molecular markers involved in prognosis and the prediction of response to adjuvant treatment. 相似文献
6.
Brambati B.; Tului L.; Baldi M.; Guercilena S. 《Human reproduction (Oxford, England)》1995,10(4):818-825
Multiple pregnancies resulting from ovarian stimulation areat a higher risk of carrying at least one fetus affected byMendelian or chromosomal anomalies, the incidence of which isdirectly related to the order of multiples. Genetic analysisbefore fetal reduction was offered to both high-and low-riskpregnant women carrying two or more fetuses after ovulationinduction. Chorionic villus sampling (CVS) and fetal reductionwere achieved by transabdominal needling. The use of short-termculture, the polymerase chain reaction and fresh tissue enzymaticanalyses have made it possible for genetic diagnosis to be availablein a few days. A total of 100 patients had multifetal pregnancyreduction performed by a single operator; all of them completedpregnancy and none was lost at follow-up. The total fetal lossbefore 24 weeks was 7% and no statistically significant relationshipwas found with the final number of fetuses and CVS. Perinatallosses (3.9%) were only present in the series with a final numberof two fetuses. Pregnancy duration and birthweight were significantlyhigher in singletons than in twins, but were not related toCVS. The rate of chromosomal disorders was higher (7.2%) inthe study series than in singleton pregnancies not undergoingfetal reduction. Diagnostic error due to incorrect samplingwas reported in 1.5% of cases. These data support fetal reductionas a valuable strategy to improve the outcome of multiple pregnancy.The outcome of pregnancies reduced to singletons was significantlybetter than of those reduced to twins, and was not related toCVS. Therefore, prenatal genetic diagnosis should become anintegral part of counselling on multiple pregnancy, and is stronglyrecommended when reduction to singleton pregnancy is requested. 相似文献
7.
8.
Alfonso Ruiz-Bravo Khalil Kouwatli Gerardo Alvarez de Cienfuegos Alberto Ramos-Cormenzana 《Immunology letters》1981,3(1):39-43
Mice pretreated with Bacillus megaterium ATCC 33085 grown on TSA medium developed a significant increase in primary antibody response to SRBC. Conversely, pretreatment with a spore suspension harvested from nutrient Agar medium decreased this antibody response. A suspension of organisms grown on a defined, phosphorus-deficient medium (P-Medium) had no effect. Otherwise, only the spore suspension was able to enhance the contact sensitivity to dinitrofluorobenzene. Peritoneal leucocyte numbers were increased by inoculation with both TSA-cultured bacteria and the spore suspension, but not by P-Medium-cultured bacteria. Administration of both the spore suspension and P-Medium-cultured bacteria decreased the in vitro phagocytosis by peritoneal adherent cells. These immunomodulator properties are discussed in relation to characteristics of the strain tested. 相似文献
9.
Roberto Rivera-Luna Marta Zapata-Tarrés Aurora Medina-Sansón Enrique López-Aguilar Ana Niembro-Zúñiga J. Amador Zarco Alfonso Marhx-Bracho Fernando Rueda-Franco Leticia Bornstein-Quevedo 《Child's nervous system》2007,23(5):543-547
Objective The purpose of this study is to analyze clinical aspects and disease-free survival (DFS) in children less than 3 years of
age diagnosed with low-grade astrocytoma.
Methods In a period of 24 years (1980–2004), a total of 43 (5.4%) children were registered with these characteristics. Twenty-three
patients had pilocytic astrocytoma, 18 diffused, and 2 mixed. Thirty-one (72.1%) children had incomplete surgical tumor resection
and 12 (27.9%) had a complete tumor resection. Twelve (27.9%) patients had cranial radiotherapy and 17 (39.5%) received chemotherapy.
Overall survival was recorded in 23 (53%). DFS was 50% at 250 months of follow-up for the whole group. DFS for the supratentorial
group was 60% at 250 months, whereas, for the infratentorial, it was 22% at 120 months (p = 0.008).
Conclusion The only favorable prognostic pattern was the supratentorial presentation. Radiotherapy and chemotherapy did not alter the
outcome. 相似文献
10.
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