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51.
Zaki A Salama M El Masry M Abou-Freikha M Abou-Ammo D Sweelum M Mashhour E Elhendy A 《The American journal of cardiology》2000,85(3):370-375
This study was conducted to assess right and left atrial hemostatic function in patients with mitral stenosis (MS) and to investigate the immediate effect of balloon mitral valvuloplasty (BMV) on hemostatic function. BMV was performed in 28 patients with MS (age 29 +/- 8 years) who had sinus rhythm and no left atrial (LA) thrombus. Right and left atrial biochemical markers of platelet activity (platelet factor 4 [PF4] and B thromboglobulin [BTG]), coagulation (thrombin-antithrombin III complex [TAT]), and fibrinolytic activity (D-dimer) were measured before and 30 minutes after BMV. Right atrial levels of these markers were also measured in 20 control subjects. Compared with control subjects, patients with MS had higher right atrial levels of PF4 (30 +/- 15 vs 5 +/- 2 IU/ml), BTG (231 +/- 53 vs 30 +/- 8 IU/ml), TAT (7 +/- 4 vs 2 +/- 0.3 microg/L), and D-dimer (380 +/- 145 vs 160 +/- 35 ng/ml, p < 0.0001 in all). TAT levels were higher in the left atrium than in the right atrium of patients before BMV (8 +/- 4 vs 7 +/- 4 microg/L, p < 0.0001). BMV was successful (final mitral valve area > or = 1.5 cm2 and > or = 50% increase of the initial valve area) in all patients. There was a significant reduction of LA levels of PF4 (35 +/- 8 to 26 +/- 9 IU/ml, p < 0.0001), BTG (225 +/- 41 to 196 +/- 28 IU/ml, p < 0.001), and TAT (10 +/- 5 to 7 +/- 1 microg/L, p < 0.05) in the 16 patients with LA pressure < 10 mm Hg after BMV, whereas these markers were not reduced in the 12 patients with left atrial pressure > or = 10 mm Hg after BMV. These data indicate that platelet function, coagulation status, and fibrinolytic activity are increased regionally in the left atrium and in the systemic circulation in patients with MS and sinus rhythm in the absence of LA thrombus. Successful BMV induces a significant reduction of prethrombotic status in patients with low LA pressure after the procedure. Patients with high LA pressure after BMV maintain a high prethrombotic state and may be considered at an increased risk of thromboembolism after the procedure. 相似文献
52.
Giménez-Mesa E Martínez-Salio A Porta-Etessam J Berbel García A Cedena Romero T Salama Bendoyan P 《Anales de medicina interna (Madrid, Spain : 1984)》2001,18(11):591-593
Reversible posterior leukoencephalopathy syndrome is a newly characterised and increasingly recognized clinico-radiologic syndrome. Underlying conditions that reportedly trigger this syndrome include hypertensive encephalopathy, eclampsia, renal failure, and immunosuppressive drug therapy with cyclosporine, tacrolimus and interferon alpha. We describe a 51-year-old woman with non-Hodgkin's lymphoma treated with conventional CHOP chemotherapy. Eight days after this treatment she developed severe headache, bilateral visual loss and focal seizures with secondary generalization. Neurologic examination showed confusion, cortical blindness, and left hemiparesis with hyperreflexia and sensory loss. A cranial T2-weighted magnetic resonance imaging revealed increased signal intensity in the occipital and frontal lobes in both hemispheres and right parietal lobe. A diagnosis of reversible posterior leukoencephalopathy was made. She presented a favourable outcome with conservative treatment with mannitol and phenytoin. A new cranial scanning showed nearly complete resolution of the abnormalities. To the best of our knowledge, this is the first case of reversible posterior leukoencephalopathy in a patient treated with standard-dose CHOP. In this patient, we confirm the theoretical pathophysiologic mechanisms suggested explaining how these drugs can cause the syndrome. 相似文献
53.
H Amiel R Gherardi C Giroux J Salama J L Bréau P Delaporte 《Annales de médecine interne》1987,138(2):96-100
The clinical, electrophysiological and histopathological features in seven cases of cisplatinum peripheral neuropathy are reported and compared with the literature data. The neuropathy appears for an average intake of 500 mg/m2 of DDP. The symptoms are those of a symmetric, distal, predominantly sensitive neuropathy of an axonal type with major involvement of proprioception. Neurological improvement is poor after withdrawal of the drug. A post mortem study performed in one case showed a degeneration of the posterior column in the cord and residual nodules of Nageotte in a lumbar spinal ganglion. The systematic study of the tendon reflexes and distal pallesthesia in subjects treated with the drug, may reveal the neuropathy before the onset of the most disabling symptoms (paresthesia, ataxia, pain, Lhermitte's sign). 相似文献
54.
N Mohebbi R Vargas‐Poussou SCA Hegemann B Schuknecht AD Kistler RP Wüthrich CA Wagner 《Clinical genetics》2013,83(3):274-278
Mohebbi N, Vargas‐Poussou R, Hegemann SCA, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Distal renal tubular acidosis (dRTA) is characterized by the inability to excrete acid in the renal collecting ducts resulting in inappropriately alkaline urine and hyperchloremic (normal anion gap) metabolic acidosis in the context of a normal (or near‐normal) glomerular filtration rate. Inborn dRTA can be due to autosomal dominant or recessive gene defects. Clinical symptoms vary from mild acidosis, incidental detection of kidney stones or renal tract calcification to severe findings such as failure to thrive, severe metabolic acidosis, and nephrocalcinosis. The majority of patients with recessive dRTA present with sensorineural hearing loss (SNHL). Few cases with abnormal widening of the vestibular aqueduct have been described with dRTA. Mutations in three different genes have been identified, namely SLC4A1, ATP6V1B1, and ATP6V0A4. Patients with mutations in the ATP6V1B1 proton pump subunit develop dRTA and in most of the cases sensorineural hearing loss early in childhood. We present two patients from two different and non‐consanguineous families with dRTA and SNHL. Direct sequencing of the ATP6V1B1 gene revealed that one patient harbors two homozygous mutations and the other one is a compound heterozygous. To our knowledge, this is the first case in the literature describing homozygosity in the same dRTA gene on both alleles. 相似文献
55.
Mahito Sadaie Rafik Salama Thomas Carroll Kosuke Tomimatsu Tamir Chandra Andrew R.J. Young Masako Narita Pedro A. Pérez-Mancera Dorothy C. Bennett Heung Chong Hiroshi Kimura Masashi Narita 《Genes & development》2013,27(16):1800-1808
Senescence is a stress-responsive form of stable cell cycle exit. Senescent cells have a distinct gene expression profile, which is often accompanied by the spatial redistribution of heterochromatin into senescence-associated heterochromatic foci (SAHFs). Studying a key component of the nuclear lamina lamin B1 (LMNB1), we report dynamic alterations in its genomic profile and their implications for SAHF formation and gene regulation during senescence. Genome-wide mapping reveals that LMNB1 is depleted during senescence, preferentially from the central regions of lamina-associated domains (LADs), which are enriched for Lys9 trimethylation on histone H3 (H3K9me3). LMNB1 knockdown facilitates the spatial relocalization of perinuclear H3K9me3-positive heterochromatin, thus promoting SAHF formation, which could be inhibited by ectopic LMNB1 expression. Furthermore, despite the global reduction in LMNB1 protein levels, LMNB1 binding increases during senescence in a small subset of gene-rich regions where H3K27me3 also increases and gene expression becomes repressed. These results suggest that LMNB1 may contribute to senescence in at least two ways due to its uneven genome-wide redistribution: first, through the spatial reorganization of chromatin and, second, through gene repression. 相似文献
56.
Apolline Salama Gwénaëlle Evanno Jean Harb Jean‐Paul Soulillou 《Xenotransplantation》2015,22(2):85-94
Human beings do not synthesize the glycolyl form of the sialic acid (Neu5Gc) and only express the acetylated form of the sugar, whereas a diet‐based intake of Neu5Gc provokes a natural immunization and production of anti‐Neu5Gc antibodies in human serum. However, Neu5Gc is expressed on mammal glycoproteins and glycolipids in most organs and cells. We review here the relevance of Neu5Gc and anti‐Neu5Gc antibodies in the context of xenotransplantation and the use of animal‐derived molecules and products, as well as the possible consequences of a long‐term exposure to anti‐Neu5Gc antibodies in recipients of xenografts. In addition, the importance of an accurate estimation of the anti‐Neu5Gc response following xenotransplantation and the future contribution of knockout animals mimicking the human situation are also assessed. 相似文献
57.
Genetic and non‐genetic factors that increase the risk of non‐syndromic cleft lip and/or palate development
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58.
Kees J.M. Lips Jaap Van Der Sluys Veer Albert Struyvenberg AD Alleman John R. Leo Paul Wittebol Werner H. Minder Cornelis J. Kooiker Rolf A. Geerdink Paul F.G.M. Van Waes Wil H.L. Hackeng 《The American journal of medicine》1981,70(5):1051-1060
Two kindreds with the multiple endocrine neoplasia type 2A syndrome were studied. Of one of these we examined 150 members, 20 of whom were treated with thyroidectomy for medullary carcinoma and nine with bilateral adrenalectomy for pheochromocytoma. Of the second kindred 59 members were examined, seven of whom were thyroidectomized and seven treated with bilateral adrenalectomy. Pheochromocytomas were invariably found on both sides, even in four cases in which the adrenals on one side appeared to be completely normal, not only at preoperative roentgenologic examination but also on inspection during the operation. The microscopic finding of micronodules and a cluster of abnormal medullary cells identical with those found in pheochromocytomas in one of the apparently normal adrenals represents a first stage in the development of diffuse medullary hyperplasia as well as nodular hyperplasia. This is in accordance with the fact that in the MEN type 2A syndrome pheochromocytomas are always multicentric and multiple in origin. On the basis of these findings we conclude that all patients with the MEN 2A syndrome who show symptoms and signs of active pheochromocytoma should be subjected to bilateral adrenalectomy, even when one or both of the adrenals appear to be normal at roentgenologic investigation. 相似文献
59.
Anal cancer is one of the most common non‐AIDS‐defining malignancies in the era of combination antiretroviral therapy. Its precursor lesion, anal intraepithelial neoplasia (AIN), is highly prevalent in HIV‐infected populations. More than 90% of anal squamous cell cancers are attributable to human papillomavirus (HPV). While the biology of HPV‐related intraepithelial neoplasia is consistent across lower anogenital sites, the natural history of AIN is not well established and cannot be assumed to be identical to that of cervical intraepithelial neoplasia. Screening strategies to prevent anal cancer should be developed based on robust natural history data in HIV‐infected and uninfected populations. Likewise, treatments need to be tested in randomized clinical trials, and reserved for those at significant risk of progression to cancer. This review covers the epidemiology, pathogenesis and immunology of HPV infection, AIN and anal cancer, and summarizes the current diagnosis, screening and treatment strategies in HIV‐infected adults. 相似文献