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991.
Steroid 11 beta-hydroxylase deficiency is relatively frequent in Israel among North African Jews. Over a 39-year period, 38 affected individuals from 25 families were diagnosed. Nineteen families came from Morocco, and in another 2, one parent came from Morocco (80% of all parents). Demographic studies showed that most of their grandparents were born in the region of the Atlas Mountains. In Israel, the overall incidence of the disorder is estimated between 1 in 30,000 to 1 in 40,000 births, but in offspring of Moroccan Jews the ratio is 1 in 5,000 to 1 in 7,000, with an allele frequency of 1 in 70 to 1 in 84 and a carrier frequency of 1 in 35 to 1 in 42. The clinical expression is characterized by a wide range of variability in the signs of androgen and mineralocorticoid excess. Virilization in the female ranged from enlarged clitoris in the mildest forms, to markedly hypertrophied clitoris with penile urethra and fused labial-scrotal folds in the most severe forms. Hypertension causing vascular accidents and death was observed in both severe and mildly virilized patients, whereas masculinized females were sometimes normotensive. Based on historical evidence, the origin of the ancestors, and the onomastic analysis of the families surnames, we propose that the mutation of 11 beta-hydroxylase deficiency in Jews from Morocco may have originated in either the ancient Jewish settlers or the native Berber tribes who lived in the region of the Atlas Mountains in the southern region of Morocco before the destruction of the Second Temple by the Romans, in the year 70 C.E. 相似文献
992.
Anders Bj?rkman Peter J?rgsholm 《Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi》2004,38(1):32-35
Although rupture of the extensor pollicis longus (EPL) tendon is a well-known complication of distal radial fractures, a number of patients rupture the EPL because of other conditions. We have retrospectively studied the aetiology of 27 ruptures of the EPL in 26 consecutive patients. Of 19 patients with injured wrists 12 had distal radial fractures, five had blunt trauma, and two had stab wounds that resulted in rupture. In the radial fractures operated on, the EPL rupture was caused by chafing against a dorsal plate (n = 2) or wear against the pins of an external fixator (n = 2). Six patients were taking steroids for systemic diseases and in two cases a local steroid injection was given just before the rupture. We conclude that previous injury is the most common cause of rupture of the EPL. but that rheumatoid arthritis or local or systemic steroids, or both, are also important aetiological factors. Seven patients had an iatrogenic cause for their rupture. 相似文献
993.
994.
The expression of the engrailed homeobox gene during trout embryogenesis has been examined using immunohistochemistry and the monoclonal antibody 'Mab 4D9'. Engrailed has been suggested to play an important role during development by controlling position-specific characteristics in the CNS of the early embryo. In the present study we have analyzed the expression of engrailed at 5 stages of embryonic development of the trout (Salmo fario L.). The earliest stage analyzed was when the optic vesicles appear. Engrailed was then expressed in the posterior mesencephalon and anterior metencephalon, in a caudorostrally decreasing gradient. As the embryo develops, the pattern of the engrailed expression increases in spatial complexity. Thus, in the later stages of development, just before hatching, engrailed was found in hypothalamic areas, the germinative matrix layer of the cerebellum, the mesencephalic tegmentum, the caudal optic tectum and in the area of the trigeminal motor nucleus. This is similar to the distribution of engrailed in embryos of amphibians, birds and mammals. 相似文献
995.
Aida Brand?o Sónia Magalh?es Adelino Correia 《Revista portuguesa de cardiologia》2004,23(7-8):993-999
Congenitally corrected transposition of the great arteries, L-TGA, is a rare abnormality accounting for less than 0.5% of clinically apparent congenital heart disease. Age at time of diagnosis and survival rate are variable and depend mostly on associated anomalies. The authors present a clinical case of a twenty-four-year-old woman in whom, in a routine echocardiogram, congenitally corrected transposition of the great arteries and aortic coarctation were diagnosed, an unusual association. They describe the results of complementary exams (echocardiography, chest X-ray, electrocardiogram and cardiac angiography) that they believe to be useful for the correct diagnosis of this clinical situation. Additionally, the authors make a brief review of the literature relevant to the case. 相似文献
996.
G Lindstedt E Nystr?m P A Lundberg E Johansson R Eggertsen 《Scandinavian journal of primary health care》1992,10(3):192-197
In order to assess the diagnostic outcome of a screening for primary hyperparathyroidism (PHPT) in an elderly population, we determined ionized calcium in serum from 368 individuals participating in a health control at M?lnlycke Primary Care Centre (200 women, 168 men; age range 75-95 years); four-fifths of the individuals living in their homes, the remainder in homes for aged or nursing homes. Intact parathyroid hormone was determined in the samples with oinized calcium concentration greater than mean + 3SD of the truncated population sample, and these individuals were also recalled for another blood sample. Moderate hypercalcaemia, probably due to PHPT, was found in eight individuals (2% of the complete sample, 3% of the women), five having neuropsychiatric or neuromuscular symptoms consistent with PHPT. Surgical intervention is probably indicated in only a small proportion of elderly patients. We conclude that optimal benefits in relation to costs of screening for PHPT in old people will depend on the availability of a safe and simple pharmacological treatment that could determine any causal relationship between hypercalcaemia and symptoms. 相似文献
997.
Tomasz Trzeciak Jacek Kruczyński Jacek Jaroszewski Przemys?aw Lubiatowski Tomasz Piontek Barbara Kaszuba 《Chirurgia narzadów ruchu i ortopedia polska》2004,69(1):31-34
Experimental and clinical tests proved that cultured, autologous chondrocytes retain their properties and have ability to reconstruct hyaline-like cartilage, which represents chemical composition and biomechanical characteristics similar to normal hyaline cartilage. The aim of this part of the study was microscopic evaluation of repair tissue structural integrity and surface regularity after autologous chondrocyte transplantation. MATERIAL AND METHODS: Repair of partial thickness cartilage defect (ICRS III(o) grade) on distal femur joint surface was evaluated (25 adolescent rabbits). Procedures were performed in two groups: I--autologous chondrocyte transplantation under periosteal flap, II--periosteal graft. Chondrocytes were isolated from the cartilage specimens by enzymatic digestion and cultured in vitro. The follow-up periods were established at 4, 8, 12 weeks. Repair tissue was evaluated microscopically according to modified O'Driscoll scale. RESULTS: In group I, 4 weeks after the procedure surface of the reconstructed tissue was irregular. 8- and 12-week observation found the surface regular and plain, and repair tissue exhibited complete structural integrity. In group II, in all follow-up periods regenerate surface was irregular, there was many fissures and cracks in graft tissue, and in several cases--regenerate disintegration. CONCLUSION: Obtained results indicate, that hyaline-like cartilage reconstructed after autologous chondrocyte transplantation was characterized by regular, plain surface and complete structural integrity. 相似文献
998.
999.
1000.
A strain of Aspergillus fumigatus has been isolated from sediments of a mussel bed. When cultured in hyper saline conditions (with sea-water), it produces a cytotoxic and immunosuppressive toxin, gliotoxin, which is excreted in an exudate. In order to know if this toxin could represent a risk for shellfish consumers, an experiment of bioaccumulation of gliotoxin in mussel has been carried out. After 6 days of contamination, toxin was accumulated in the meat of the mussels, at a level up to 2.9 microg/mg of extract weight, with a mode of contamination different to the classical digestive process described for a majority of marine toxins, but similar to the contamination mode of domoic acid. 相似文献