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91.
92.
Fumić K Stavljenić-Rukavina A Mrsić M Potocki K 《Acta medica Croatica : c?asopis Hravatske akademije medicinskih znanosti》2004,58(5):353-358
Gaucher's disease is the most common lysosomal storage disorder. It was identified in 1882 by Phillipe Gaucher, a French dermatologist. However, it was not until 1965 that Gaucher disease was found to be due to a deficiency in the enzyme glucocerebrosidase (EC 3.2.1.45) which breaks down glucocerebroside, a cell membrane component. The deficiency in this enzyme leads to an accumulation of glucocerebroside within the lysosomes of macrophages throughout the body. Gaucher's disease is classified into three types: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Of the three, type 1 is the most common, affecting one in 40,000-200,000 people and having a high prevalence among Ashkenazi Jews, affecting one in 450-1500. The signs and symptoms of type 1 disease demonstrate marked heterogeneity, from asymptomatic or mildly symptomatic, to severe disability with disfigurement and even death. Hepatosplenomegaly and thrombocytopenia are well documented. Less well-recognized are often insidious skeletal complications which affect the majority of type 1 patients and which are its most debilitating feature. In addition to clinical suspicion, some morphologic, hematologic and biochemical indicators can help establish the diagnosis. However, definitive diagnosis is only made by determining the catalytic activity of the lysosomal enzyme glucocerebrosidase. Confirmation of heterozygosity requires the use of molecular biotechnology methods. About 150 mutations of the glucocerebrosidase gene have been identified in patients with Gaucher's disease, some of which are predictive of phenotype. The history of treatment of Gaucher disease started with splenectomy and continued with bone marrow transplantation, before the recent introduction of safe and effective enzyme replacement therapy. In Croatia, nine patients with type 1 Gaucher's disease have been identified so far. Seven patients are on enzyme replacement therapy, and past results demonstrated significant improvement in all clinical symptoms, without development of any side effects. However, new treatments, such as substrate balance therapy and gene therapy, may become available within the next few years. The place, if any, that such therapies will have in the treatment of patients with Gaucher's disease will be dependent on the results of clinical studies currently in progress. 相似文献
93.
Vesna Čapkun Davor Eterović 《European journal of nuclear medicine and molecular imaging》1985,11(4):120-122
Radionuclide-angiography (RNA_ left-to-right intracardiac-shunt quantification algorithms, based on the part-by-part fit technique and the use of a so-called gamma variate model function (GVF), were tested via simulation analysis using data obtained from normal subjects. A good bolus of radioindicator was obtained by administering it directly into the vena subclavia. Normal subjects were defined as those having pulmonary histograms (PH) with no visible distortion caused by a shunt. Pure, non-superimposed data on the downslope of the PH curves, which are lost in presence of a shunt, proved to be appropriate reference values for testing the accuracy of results of standard shunt quantification algorithms. A generalized four-parameter GVF was introduced in order to extend the flexibility of the model function. The use of the three-parametric GVF to reconstruct the downslope of the PH curve out of the upslope data proved to be inadequate. This reveals an evident source of error in algorithms that calculate the shunt contribution by fitting GVF parameters to so-called difference-curve data. It is concluded that the inherent restricted statistical weight of RNA data prevents accurate results being obtained from standard RNA-shunt-assessment algorithms. 相似文献
94.
Davor Ježek Ljerka Šimunić-Banek Ružica Pezerović-Panijan 《Archives of toxicology》1993,67(2):131-140
The effects of exogenous testosterone on various testicular variables has become of increasing significance because of its potential use in male contraception. For this reason, high doses of two testosterone esters [testosterone propionate (TP) and testosterone enanthate (TE)] were used in a study of their influence on the morphology, length and curvature of the seminiferous tubules of the rat testis, and on cytological smears of the seminiferous tubules epithelium. TP was given for 14 days (3 mg/100 g body weight, i. m.) to assess the acute effects of testosterone on the seminiferous tubules. TE was administered for 60 days (in the same manner as TP) to study possible chronic effects on the rat testis. After TP and TE treatment the seminiferous tubule epithelium showed disorganization and desquamation of spermatogenic cells. In the TP-treated testes the tubules lined with Sertoli cells only were observed. The values for the length and curvature of seminiferous tubules of the TP- and TE-treated rats were significantly reduced (p<0.001). All these changes were observed earlier in the TP-treated than in the TE-treated animals. In cytological smears of the testis of the TP- and TE-treated rats an increase of vacuoles and residual bodies in Sertoli cell cytoplasm was noted. In addition, a reduction of spermatogenic cells, particularly sperms, was manifest in the smears after treatment. Large groups of Sertoli cells were seen in the smears from these testes.The study was supported by a Grant for Scientific Research No. 3-01-041 from the Ministry of Science, Technology and Informatics of the Republic of Croatia 相似文献
95.
Milana Popović-Rolović Mirjana Kostić Miodrag Sindjić Olga Jovanović Amira Peco-Antić Divna Kruščić 《Pediatric nephrology (Berlin, Germany)》1993,7(4):396-400
We report the clinical and morphological features of a distinctive hepatorenal disorder in four patients and review the five similar patients in the literature. The main clinical characteristics were early onset of cholestatic liver disease and progressive tubulointerstitial nephritis leading to renal death in early childhood. Liver histology showed disturbed architecture with nodular and acinar formations and portal fibrosis and bile duct proliferation. Histological abnormalities in the kidney were severe interstitial fibrosis and tubular atrophy and dilatation, while the typical features of nephronophthisis were lacking. These clinical and morphological characteristics distinguish our patients from the majority described, as having nephronophthisis and congenital hepatic fibrosis or any other known syndrome with concomitant hepatorenel involvement. We suggest that the association of cholestatic liver disease and progressive tubulointerstitial nephritis represents a new syndrome. 相似文献
96.
97.
Summary Paralytic dislocation of the hip in cerebral palsy may be prevented by soft tissue surgery and the results of two procedures are reported. Twenty hips were treated by adductor tenotomy alone and this was unsuccessful in every case. An alternative method was carried out in 42 hips in 25 patients. The procedure combined adductor tenotomy with release of the hip muscles including iliac crest resection, tenotomy of the rectus femoris, recession of the iliopsoas and, when necessary, either release or transposition of the knee flexors. This was much more successful in decreasing migration of the femoral head.
Résumé Dans la paralysie cérébrale la luxation de la hanche peut être efficacement évitée grâce à des interventions chirurgicales portant sur les parties molles. Nous avons étudié les résultats de deux types d'opération: la ténotomie des adducteurs et cette même opération associée à la désinsertion de la hanche (avec transposition du psoas sur la partie proximale de la capsule) et éventuellement avec allongement des fléchisseurs du genou ou transposition de ceux-ci sur la partie distale du fémur. Soixante-deux hanches ont été opérées chez 45 malades. Les résultats de la ténotomie isolée des adducteurs ont été insuffisants dans les 20 cas opérés (âge moyen au moment de l'opération, 4, 5, ans, recul 6,5 ans). Les résultats du deuxième type d'intervention ont été meilleurs dans les 42 hanches opérées, le pourcentage migratoire de la tête fémorale a été réduit de 45% (âge moyen lors de l'opération 7 ans, recul 5 ans). Plus de la moitié des malades étaient capables de se déplacer.相似文献
98.
G. Roglić I. Pavlić-Renar S. šestan-Crnek M. Prašek M. Kadrnka-Lovrenčić A. Radica Ž. Metelko 《Diabetologia》1995,38(5):550-554
Summary The objective of this study was to determine the incidence of insulin-dependent diabetes mellitus (IDDM) in the population of Zagreb, Croatia, during 1988–1992. A centralized diabetes registry was the primary source of data, while secondary sources were used to assess ascertainment. A total of 282 new cases of IDDM were diagnosed in the study period, the primary and secondary sources identifying annually 93–100% of the cases. The annual incidence rate ranged from 5.6 per 100,000 to 6.6 per 100,000. Early fatality in persons older than 50 years was the major cause of underascertainment. The incidence peaked in the 10–14 years age group (12.4 per 100,000), and remained stable after age 24 years. Males had a significantly higher incidence in the 5–9 and 24–44 years age groups. In the 45–54 years age group, females had a significantly higher incidence. No seasonality was observed. Despite the war conditions in Croatia, the low overall IDDM incidence rates did not change significantly during the study period.Abbreviations IDDM
Insulin-dependent diabetes mellitus
- DKA
diabetic ketoacidosis 相似文献
99.
Z. Milutinović 《European archives of oto-rhino-laryngology》1995,252(8):491-494
There are numerous surgical procedures now available to manage bilateral abductor paralyses of the vocal folds. These procedures have various success rates but mostly do not offer reliable and predictable postoperative results, and usually require ,tracheotomy. The technique described in this report is based on a trial study to obtain a safe airway for an affected patient and avoid tracheotomy, if possible. Submucosal cordectomy was used with lateral fixation of one vocal fold and preservation of the arytenoid. The procedure was performed by using continuous intravenous anesthesia, which does not require intubation of the patient's airway. Seven patients were operated with this technique with excellent postoperative results. The glottal airway was largely improved in all patients, with only minor temporary complications. 相似文献
100.
Hydatide disease of the adrenal gland is extremely rare, even in disseminated disease. Isolated cyst of the gland is even more rare. Only 9 of such cases seem to have been described so far. We present a 49 year old woman in whom a hydatide cyst of the right gland was found during the investigation for the dull pain in the area. She was successfully operated. Hydatide etiology was confirmed at operation and by histology. She had an uneventful recovery. The preoperative pain disappeared postoperatively. 相似文献