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41.
A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
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An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia. 相似文献
42.
Philippe Chauveau Benot Vendrely Wael El Haggan Nicole Barthe Vincent Rigalleau Christian Combe Michel Aparicio 《Journal of renal nutrition》2003,13(4):282-287
BACKGROUND: It has been reported that patients on a very-low-protein diet (VLPD) maintain a satisfactory nutritional status because of a conserved adaptive metabolic response. However, only few studies have examined the course of nutritional status and body composition in the long term (2 years). METHODS: Thirteen stable patients (8 men; age, 55 +/- 12 years; glomerular filtration rate (GFR), 15 +/- 5 mL/min) receiving a VLPD (0.3 g/kg/day protein) supplemented with amino acids and ketoanalogues (SVLPD) were studied for 2 years. A joint visit with a physician and a dietitian and routine blood and urine analyses were performed every month. Dual-energy x-ray absorptiometry (DEXA), which was used to assess modification of body composition, and GFR (urinary 51Cr-EDTA) and urinary urea and creatinine excretion, which were used to assess nutritional status and compliance to the diet, were assessed every 3 months. RESULTS: GFR, albumin, and prealbumin levels remained stable. Urea urinary excretion decreased at 3 months and then slightly increased at 2 years, but the calculated protein intake remained low at 0.38 +/- 0.1 g/kg/day. Energy intake remained close to 30 kcal/kg/day. No significant change was observed for total fat mass or percent fat mass. After an initial decrease, lean body mass stabilized at 6 months and then increased significantly from 6 to 24 months (P =.02, paired t-test); the mean increase during this period was of 2 kg, that is, 4.6%. Urinary creatinine excretion showed the same profile. Total bone mass, lumbar or hip site bone mass, and Z-score significantly decreased from T0 to 1 and 2 years (P <.05). CONCLUSION: This study confirms that a supplemented VLPD is nutritionally safe for a long period, but attention must be paid to bone mass. 相似文献
43.
Tarek Sadek Hakim Mazouz Hedi Bahloul Roxana Oprisiu Najeh El Esper Isabelle El Esper Francis Boitte Michel Brazier Philippe Moriniere Albert Fournier 《Nephrology, dialysis, transplantation》2003,18(3):582-588
BACKGROUND: Sevelamer hydrochloride was recently proposed as a phosphate binder to prevent hypercalcaemia in place of calcium alkaline salts in dialysis patients. So far, it has been evaluated only in patients receiving calcitriol, without comparison with CaCO(3) alone, although the latter was found to be as effective as the combination of calcitriol and Al(OH)(3) in suppressing parathyroid hormone (PTH) without inducing hypercalcaemia and to have a better lowering effect on serum phosphate. Moreover, this bile salt binder may decrease serum 25-OH vitamin D. Therefore, we compared for 5 months two strategies for controlling moderate hyperparathyroidism: CaCO(3) alone vs sevelamer in conjunction with measures to increase calcium balance. METHODS: Forty-two patients were randomized: 21 continued their treatment with 4.8 g/day CaCO(3) and 21 were switched to sevelamer (initial dose: 2.4 g/day, increased to 4.4 g/day). Each month, when serum-corrected calcium decreased below 2.30 mmol/l, dialysate calcium was increased or alphacalcidol was given at each dialysis session, according to serum PO(4) levels. The following parameters were monitored: serum Ca, PO(4), bicarbonate and protein, weekly; and serum PTH, 25-OH vitamin D and total, LDL and HDL cholesterol monthly. RESULTS: Except for higher serum phosphate at month 1, lower serum bicarbonate at month 2 and lower LDL cholesterol at month 5 in the sevelamer group, no difference was found between the two groups. Compared with baseline levels, PTH increased and 25-OH vitamin D decreased significantly in both groups, these two parameters being inversely correlated. CONCLUSIONS: Given comparable control of plasma calcium, phosphate and 25-OH vitamin D, PTH control is comparable in both strategies. Sevelamer does not induce greater vitamin D depletion than CaCO(3). The transient decrease of serum bicarbonate after discontinuation of CaCO(3) in the sevelamer group suggests a less optimal prevention of acidosis. The sevelamer-induced decrease in LDL cholesterol gives this drug a potential advantage in cardiovascular prevention. 相似文献
44.
Anna Szymańska Elżbieta Korobowicz Wiesław Gołąbek 《European archives of oto-rhino-laryngology》2006,263(7):657-660
Nasopharyngeal angiofibromas occur predominantly in males in their puberty and adolescence; the incidence in other age groups and in women is exceptional. This report describes a case of a 57-year-old woman with nasopharyngeal angiofibroma presenting typical radiological findings in computed tomography, MR imaging and angiography. The tumour was successfully removed and histopathological examination confirmed the diagnosis. In 6 years follow-up the patient is free of symptoms. 相似文献
45.
O. H. Hishmat O. A. El-Shabrawy H. I. El Diwani N. M. Fawzy 《Archives of pharmacal research》1988,11(2):87-92
A number of substituted furodiketochroman derivatives (III a-f ) have been synthesized by fusion of aromatic aldehydes with 5-hydroxybergapten and 5-hydroxyisopimpinellin. On the other hand, when the reaction was carried out in a solvent, the corresponding bis-furocoumarin derivatives (IV c-n ) were obtained. The anticoagulant effect of compoundsIII a,b,d andIV b,c,f,g,i,k , was tested. They failed to demonstrate any significant effect. The effect of the tested compounds on the arterial blood pressure was studied. CompoundsIV c ,III d ,III b ,IV b ,IV g ,IV k andIV i showed lowering effects on the normal systolic blood pressure of anaesthetized rats in a decreasing manner. 相似文献
46.
M. El‐Batawy A. S. Zahran S. A. Madkor C. J. Smith 《Food and Agricultural Immunology》1993,5(1):57-60
An enzyme‐linked immunosorbent assay (ELISA) for the detection of porcine pepsin in milk‐clotting enzyme preparations has been developed. The assay is capable of detecting porcine pepsin in the range 1 μgto 1 mg ml‐1 without enhancement or modification. The specificity of the technique was studied by inhibition assay. Slight cross‐reactions with bovine rennet and Mucor miehei rennet occurred at high concentrations (1.0 mg ml‐1). The ELISA used in this investigation appears to provide a quick, sensitive and specific method for the detection of porcine pepsin and has potential applications in the dairy industry. 相似文献
47.
Sidi Mohammed El Amine Debbal 《Journal of medical engineering & technology》2020,44(7):396-410
Abstract Heart auscultation has been recognised for a long time as an important tool for the diagnosis of heart disease; it is the most common and widely recommended method to screen for structural abnormalities of the cardiovascular system. Detecting relevant characteristics and forming a diagnosis based on the sounds heard through a stethoscope, however, is a skill that can take years to be acquired and refine. The efficiency and accuracy of diagnosis based on heart sound auscultation can be improved considerably by using digital signal processing techniques to analyse phonocardiographic (PCG) signals. The study of the functioning of the heart is very important for the diagnosis of different cardiac pathologies. The phonocardiogram signal (PCG) is the signal generated after conversion of the sound noises coming from the heart into an electrical signal, it groups together a set of four cardiac noises (S1, S2, S3, S4) which are in direct correlation with cardiac activity. The short-term Fourier Transform (STFT) is an analytical technique that describes the evolution of the time and frequency behaviour of these four heart sounds. A statistical study has been carried out in this direction in order to better highlight the characteristics of the PCG signal. A fairly high number of cycles (twenty) was used to further refine the expected results. The objective of this paper is to use a statistical analysis based on the results obtained by the use of The STFT technic this in order to find statistical parameters (mean, standard deviation, etc.) which can give us a clear vision of the electrophysiological behaviour of the phonocardiogram signal. This aspect has not been done so far and which however can give appreciable practical results. 相似文献
48.
Skill NJ Griffin M El Nahas AM Sanai T Haylor JL Fisher M Jamie MF Mould NN Johnson TS 《Laboratory investigation; a journal of technical methods and pathology》2001,81(5):705-716
Diabetic nephropathy (DN) is characterized by an early, progressive expansion and sclerosis of the glomerular mesangium leading to glomerulosclerosis. This is associated with parallel fibrosis of the renal interstitium. In experimental renal scarring, the protein cross-linking enzyme, tissue transglutaminase (tTg), is up-regulated and externalized causing an increase in its crosslink product, epsilon-(gamma-glutamyl)-lysine, in the extracellular space. This potentially contributes to the extracellular matrix (ECM) accumulation central to tissue fibrosis by increasing deposition and inhibiting breakdown. We investigated if a similar mechanism may contribute to the ECM expansion characteristic of DN using the rat streptozotocin model over 120 days. Whole kidney epsilon-(gamma-glutamyl)-lysine (HPLC analysis) was significantly increased from Day 90 (+337%) and peaked at Day 120 (+650%) (p < 0.05). Immunofluorescence showed this increase to be predominantly extracellular in the peritubular interstitial space, but also in individual glomeruli. Total kidney transglutaminase (Tg) was not elevated. However, using a Tg in situ activity assay, increased Tg was detected in both the extracellular interstitial space and glomeruli by Day 60, with a maximal 53% increase at Day 120 (p < 0.05). Using a specific anti-tTg antibody, immunohistochemistry showed a similar increase in extracellular enzyme in the interstitium and glomeruli. To biochemically characterize glomerular changes, glomeruli were isolated by selective sieving. In line with whole kidney measurement, there was an increase in glomerular epsilon-(gamma-glutamyl) lysine (+361%); however, in the glomeruli this was associated with increases in Tg activity (+228%) and tTg antigen by Western blotting (+215%). Importantly, the ratio of glomerular epsilon-(gamma-glutamyl) lysine to hydroxyproline increased by 2.2-fold. In DN, changes in the kidney result in increased translocation of tTg to the extracellular environment where high Ca(2+) and low GTP levels allow its activation. In the tubulointerstitium this is independent of increased tTg production, but dependent in the glomerulus. This leads to excessive ECM cross-linking, contributing to the renal fibrosis characteristic of progressive DN. 相似文献
49.
N. El bari P. Montagne M. L. Cuilliere G. Humbert G. Linden J. Duheille 《Food and Agricultural Immunology》1992,4(4):229-240
Rabbit anti‐native bovine ß‐casein antiserum reacted with native ß‐casein and fragments f( 1–105/7) and f( 106–209) formed during ß‐casein proteolysis by plasmin. Agglutination of ß‐casein‐coated microparticles by anti‐native ß‐casein antiserum was weakly inhibited by ß‐casein f(1–105/7) and ß‐casein f( 106–209) (0·04 and 1·4%, respectively, compared with native ß‐casein). Immunoreactivity of these ß‐casein peptides in microparticle‐enhanced nephelometric immunoassay was more preserved in the whole ß‐casein than in its isolated fragments. The protein concentration producing 50% inhibition of the ß‐casein‐coated microparticle agglutination with anti‐native ß‐casein antiserum increased during ß‐casein denaturation. A microparticle‐enhanced nephelometric immunoassay, quantifying changes of this inhibiting protein concentration, permitted detection of alteration of the immunoreactivity of ß‐casein during its plasmin proteolysis and heat denaturation, providing an adequate test for the integrity of the whole molecule. 相似文献
50.
Widespread IgE-mediated hypersensitivity in the Sudan to the 'green nimitti' midge, Cladotanytarsus lewisi (Diptera: Chironomidae) II. Identification of a major allergen.
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A major allergen has been identified in an aqueous extract of the 'green nimitti' midge, Cladotanytarsus lewisi (Diptera: Chironomidae). Following chromatography on Sephadex G-100 allergenic activity, as assessed by skin ('prick') testing, eluted as two closely related peaks (pools I and II) at about 50% bed volume. When these pools were applied separately to columns of CM-cellulose, activity in each eluted with 0 . 05 M NaCl. Isoelectric focusing of the unfractionated allergen gave a single peak of activity at pI 4 . 3. By SDS--PAGE, biological activity in the whole 'green nimitti' extract and the material eluting from both pools I and II of the Sephadex G-100 column migrated to the same positions and were associated with a molecular size of 15,000--20,000 daltons. Skin test reactivity of the unfractionated material and the Sephadex G-100 pool I and II eluates were all destroyed following incubation with trypsin, chymotrypsin, thermolysin and neuraminidase. These experiments indicate that a major allergen derived from the 'green nimitti' midge, a cause of widespread and severe immediate-type allergy in the Sudan, is an acidic glycoprotein of 15,000--20,000 molecular weight. 相似文献