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11.
Bernard–Soulier syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder. Pregnancy in patients with BSS is characterized by ante‐, intra‐, or postpartum haemorrhage, which may be delayed and severe. There is no consensus in the management of BSS in pregnancy and so far only 16 pregnancies in nine patients have been described. We report a further three pregnancies in two women with the syndrome. We also outline our management of pregnant patients with BSS. 相似文献
12.
Petra Schwingenschuh Karoline Wenzel Petra Katschnig Ronald Saurugg Erwin Ott 《Movement disorders》2007,22(5):742-745
We describe a case of a palatal tic resembling palatal tremor (PT) in a young female patient with a previously unrecognized mild Tourette syndrome. At the time of her visit, the patient complained about ear clicks that were audible to others. We discuss the differential diagnoses of hyperkinetic palatal movements emphasizing the ongoing discussion about essential PT representing a more heterogeneous disorder than previously thought. 相似文献
13.
Manuel Steiner Andishe Attarbaschi Margit K nig Helmut Gadner Oskar A. Haas Georg Mann 《Pediatric hematology and oncology》2004,22(1):11-16
Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). Thus, it was somewhat surprising that according to the currently available literature the incidence of TEL/AML1+ BCP ALL is extremely low in patients with Down syndrome (DS). To further investigate this issue in a population-based fashion, the authors retrospectively assessed the number of DS patients with a TEL/AML1+ ALL in two consecutive Austrian ALL multicenter trials. Accordingly, they were able to analyze 8 of 10 individuals with DS and a BCP ALL, including 2 who suffered from a TEL/AML1+ leukemia. Based on this observation we concluded that individuals with a constitutional trisomy 21 may have the similar likelihood to develop a TEL/AML1+ leukemia as BCP ALL patients without this specific predisposing factor. 相似文献
14.
M Ugras† G Kocak† H Ozcan‡ 《Journal of the European Academy of Dermatology and Venereology》2006,20(9):1126-1128
Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl delivered from a 29-year-old healthy mother was admitted to hospital with a thick membrane covering her body and dismorphic appearance. The diagnosis of NLS was made according to characteristic features. The syndrome is known to have a poor prognosis and the baby lived for 9 weeks. This case is one of the longest living cases of NLS and the fourth case reported from Turkey. 相似文献
15.
We report on 4 children who experienced a syncopal episode while being treated with guanfacine without any other evident cause. Syncope appears to be an uncommon side effect of guanfacine and is probably due to drug-induced hypotension or bradycardia. 相似文献
16.
Yohei Mizuta Fuminao Takeshima Saburo Shikuwa Satoshi Ikeda Shigeru Kohno 《Digestive endoscopy》2006,18(2):88-97
Obstructive sleep apnea syndrome (OSAS) is a common condition characterized by repetitive sleep‐induced collapse of the upper airways. It is associated with increased risk for hypertension, ischemic heart disease, cerebral stroke, and traffic accidents. In contrast, gastroesophageal reflux disease (GERD) is a very common disorder defined as various symptoms or esophageal mucosal damage generated by the abnormal reflux of gastric contents into the esophagus. Patients with OSAS have been reported to have a high prevalence of gastroesophageal reflux (GER) symptoms. The increase of transdiaphragmatic pressure in parallel with the large negative intrathoracic pressure produced during apnea events may directly lead to GER. In addition, some studies have demonstrated improvement in GERD with the application of continuous positive airway pressure, most consistently effective treatment for OSAS. However, GER dose not occur with every apnea. Moreover, the common conditions observed in patients with OSAS, including obesity or alcohol ingestion, are also predisposing factors for GER. A more recent investigation in over 1000 subjects failed to show a causal link between both diseases. Thus, the potential relationship between OSAS and GERD remains controversial. Inconsistencies in definitions of both diseases or sampling biases may contribute to the confusing results. 相似文献
17.
D Gröne† R Treudler† EM de Villiers‡ R Husak† CE Orfanos† ChC Zouboulis†§ 《Journal of the European Academy of Dermatology and Venereology》2006,20(2):202-205
Cidofovir is an acyclic nucleoside phosphonate with broad-spectrum activity against DNA viruses, including human papilloma virus (HPV). However, data on the efficacy of cidofovir in an immunosuppressive setting remain contradictory. We report for the first time on the promotion of the healing of recalcitrant warts in a patient with myelodysplastic syndrome with intravenous cidofovir treatment. 相似文献
18.
TOMONORI KATO HIROYOSHI SUZUKI AKIRA KOMIYA TAKASHI IMAMOTO YUKIO NAYA TOYOFUSA TOBE TOMOHIKO ICHIKAWA 《International journal of urology》2006,13(7):915-919
AIM: The clinical significance of the urinary white blood cell (U-WBC) count and serum C-reactive protein (CRP) level was evaluated in an effort to improve the efficiency of prostate biopsies. METHODS: We enrolled 228 consecutive patients with serum prostate-specific antigen (PSA) ranging from 3.0 to 20.0 ng/mL, normal digital rectal examination findings, and who underwent prostate biopsies between January 2001 and August 2004. Of these, 157 patients had histologically confirmed benign prostatic disease and the remaining 71 patients had prostate cancer. Patients with a pretreatment U-WBC count < or =3 or >3/high power field were defined as non-pyuria and pyuria, respectively. The patients were also separated into two groups based on the serum CRP level prior to biopsy. Several clinical factors were compared among these subgroups. RESULTS: Inflammation was histologically detected at rates of 58.1% and 34.1% in the pyuria and non-pyuria groups, respectively (P = 0.0014). The rates of cancer detection were significantly lower in the pyuria, than in the non-pyuria group (P = 0.0384). The cancer detection rates did not significantly differ according to serum CRP levels prior to biopsy. CONCLUSION: The U-WBC count appears to be a reliable indicator of minute prostatic inflammation. The serum PSA level was elevated in patients with asymptomatic prostatitis. Counting U-WBC is a simple, convenient and non-invasive method that should be valuable part of routine urological examinations. 相似文献
19.
肾综合征出血热患者T细胞亚群数量与白细胞介素2,4水平变化的关系 总被引:2,自引:0,他引:2
采用ABC免疫组化染色法及单克隆抗体夹心法ELISA,同步检测了34例肾综合征出血热(HFRS)患者外周血T细胞亚群数量和血清白细胞介素2和4(IL-2、IL-4)水平。发现HFRS病程中各T细胞亚群数量均有不同程度的升高,其中CDS阳性T细胞在各病期均有升高。IL-4水平升高仅见于发热期.而IL-2的升高主要在低血压期和少尿期。病程中有CD4/CD8比值的下降甚至倒置。这种比值的变化与IL-2和IL-4的动态变化有一定的相关性。结果揭示,在HFRS发病机理中存在Thl型和Th2型免疫反应等多种免疫病理机制。 相似文献
20.
Precise and limited decompression for lumbar spinal stenosis 总被引:3,自引:0,他引:3
Summary Fifty-eight consecutive patients with lumbosacral nerve root entrapment due to spinal stenosis were treated with modified microsurgical decompression. Only the clinically relevant sides and levels were decompressed while the spinous processes, the interspinous ligaments, the medial portion of ligamentum flavum and the functionally important parts of the facet joints were preserved. The reviewers rated recovery as good or excellent in 71% of patients while patient self-assessment indicated 76% good or excellent outcome. These data suggest that microsurgical decompression of spondyloarthritic changes can effectively relieve the signs and symptoms of nerve root compression and that with careful evaluation of all available data the number of nerve roots requiring decomperession is often fewer than what is suggested by diagnositic images alone. 相似文献