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41.
OBJECTIVES: We aim to describe a case with oral-facial-digital syndrome type VI (OFDS VI) or Varadi-Papp syndrome where the only prenatal findings were cleft lip and palate and a primum type atrial septal defect (ASD). METHODS: A 24-year-old pregnant woman, gravida 1 para 0, attended the prenatal clinic for a routine visit at 16 weeks of gestation. Her medical and family history was unremarkable. There was no history of consanguinity, drug or teratogen exposure. Her triple screening test and other routine biochemical and haematological blood tests did not reveal any abnormal results. During routine prenatal sonographic examination at the 16th gestational week, cleft lip and palate including secondary palate on the right side of the face was detected and ASD was suspected. RESULTS: After delivery, prenatally diagnosed cleft lip and palate and primum ASD were confirmed. Postnatally, minimal micrognathia, posteriorly rotated low-set ears, minimal hypertelorism, epicanthal folds, nystagmus, esotropia, broad nasal tip, intraoral frenula and lobed tongue, shawl scrotum and duplicated nail of the index fingers of both hands were also observed. Radiological examination showed partial agenesis of the corpus callosum and partially duplicated terminal phalanx of the index fingers. A diagnosis of Varadi-Papp syndrome was formulated. At one year of age, there was short stature and delayed mental and motor development. CONCLUSION: Understanding the limitations of prenatal ultrasound is very important for the genetic counselling of prospective parents, since major ultrasound findings can be associated with other minor or undetectable features. 相似文献
42.
The authors report 3 unrelated Turkish cases of disorganizationlike syndrome. All of these patients have accessory limbs, and 2 of them have accessory genitourinary structures. Interestingly, one of these patients has extrophia vesicalis of accessory bladder. None of them have chromosomal abnormality. Here the authors present distribution of findings of these cases. 相似文献
43.
Ogus NT Us MH Ogus H Isik O 《Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital》2004,31(2):143-148
In 31 consecutive patients with ischemic left ventricular dysfunction and mitral regurgitation ranging from 2/4 to 3/4 (mean, 2.87 +/- 0.34), we performed coronary bypass grafting alone and assessed early and midterm outcomes. Our patients' mean preoperative New York Heart Association functional class was 3.64 +/- 0.48, and their mean left ventricular ejection fraction was 0.25 +/- 0.05. Preoperative thallium imaging revealed that all patients had at minimum a partially reversible defect in the anterior wall. All patients survived the operation. Hospital length of stay ranged from 5 to 21 days (mean, 8.35 +/- 4.07 days), and mean length of follow-up was 21.35 +/- 13.24 months. Postoperatively, patients' functional classification improved to a mean of 1.32 +/- 0.6; left ventricular ejection fraction improved to a mean of 0.43 +/- 0.09; and severity of mitral regurgitation decreased to a mean of 1.35 +/- 0.96. Statistical analysis showed that all improvements were significant. Five late cardiac deaths occurred. Preoperative variables showed no correlation with late death. However, postoperative left ventricular ejection fraction and mitral regurgitation did correlate with late death, which suggests that the reversibility of damaged ischemic myocardium plays an important role after revascularization. This study supports the concept that ischemic mitral regurgitation might well improve after myocardial revascularization regardless of its severity; therefore, it should not be corrected at the primary operation, except in patients with organic valvular changes. 相似文献
44.
45.
Babaoglu MO Yasar U Sandberg M Eliasson E Dahl ML Kayaalp SO Bozkurt A 《European journal of clinical pharmacology》2004,60(5):337-342
Objective Cytochrome
P450 2C9 (CYP2C9) is a polymorphic enzyme catalysing the metabolism of several important drugs. Losartan has recently been suggested as a selective probe for CYP2C9 metabolic activity. The aim of the study was to determine the activity of CYP2C9, using losartan as a probe drug, in relation to CYP2C9 genotype in healthy Turkish subjects.Methods A single oral dose of 25 mg losartan was given to 85 Turkish unrelated subjects. Concentrations of losartan and its carboxylic acid metabolite, E3174, were analysed by means of high-performance liquid chromatography in urine collected for 8 h. The
CYP2C9 genotypes were determined in 85 subjects using polymerase chain reaction-based endonuclease digestion methods specific for CYP2C9*2 and *3. Losartan oxidation was also studied in vitro, using human CYP2C8 and CYP2C9 enzymes expressed in yeast.Results The frequencies of the allelic variants CYP2C9*2 and
CYP2C9*3 were 0.100 and 0.088, respectively. The urinary losartan/E3174 ratio was significantly higher in subjects with CYP2C9*1/*3 genotype (median 2.35, n=12) than in subjects with
CYP2C9*1/*1 (0.71, n=58) and *1/*2 (0.85,
n=10) genotypes (P<0.05). In contrast to CYP2C9, no E3174 was formed by CYP2C8 in vitro.Conclusion The urinary losartan to E3174 metabolic ratio after a 25-mg losartan dose was found to be a safe and useful phenotyping assay for CYP2C9 activity in vivo. CYP2C9*3 variant allele is a major determinant of the enzyme activity, and it decreases losartan metabolism significantly, while CYP2C9*2
allele has less impact on enzyme function. 相似文献
46.
Dorsal bony septum: a split cord malformation variant 总被引:1,自引:0,他引:1
Split cord malformations (SCMs) are rare spinal anomalies and their classification is still a matter of debate. There is no widespread consensus on the embryological basis of this entity. The unified theory, proposed by Pang et al. [Neurosurgery 1992;31:451-480], was an attempt to explain the embryogenetic mechanism as a basic error occurring around the time when the primitive neuroenteric canal closes. We report two unusual cases of SCMs with a dorsally situated bony spur. We analyzed the radiological, clinical and surgical features of the lesions and were not able to classify these cases according to the unified theory. Further embryological studies should be conducted to elucidate the mechanisms of occurrence of these lesions, and the dorsal bony septum variant should be considered in SCM surgery. 相似文献
47.
Purpose: The aim of the study was to investigate the gastric smooth muscle reactivity in the Adriamycin-induced esophageal atresia (EA) rat model.Methods: The fetuses were divided into 3 groups. The control group was exposed to saline. The second group was comprised of fetuses that were exposed to Adriamycin but did not have EA (Adriamycin-no-EA group). The third group was comprised of fetuses that were exposed to Adriamycin and had EA (Adriamycin-EA group). Gastric fundus strips were studied in vitro for their contractile response to receptor activation in the 3 groups.Results: Contractile responses of gastric smooth muscle to carbachol and KCl were increased in the Adriamycin-EA group compared with the Adriamycin-no-EA group. Also serotonin-induced contractile response in the Adriamycin-EA group decreased compared with the Adriamycin-no-EA group. Relaxation of gastric smooth muscle strips to isoproterenol was comparably unaffected in the Adriamycin-EA and Adriamycin-no-EA groups. Likewise, no change in the response to agonist studies was observed between the control and Adriamycin-no-EA groups. The relaxant response to papaverine was not different in the 3 groups.Conclusions: This study found changes of receptor-dependent and receptor-independent contraction of the gastric fundus smooth muscle in the fetuses with EA. Therefore, impaired contractile responses may be, at least in part, a contributing factor in the abnormal gastric motility seen in EA. 相似文献
48.
49.
Altan VM 《Current medicinal chemistry》2003,10(15):1317-1327
In spite of the significant developments in antidiabetic therapy, diabetic complications, particularly seen in long-term diabetes, continue to be seriously deleterious. Various types of diabetic complications affecting different systems in the body have been reported. The clinical course of the disease is largely determined by those complications. Therefore, an important area is obviously prevention or treatment of the disabling complications associated with diabetes. Recent investigations address to the problem from different angles, since the development of diabetes-induced long-term problems is likely a multifactorial process. In this review, some of the factors which are implicated in the development of these complications such as neuropathy, retinopathy and cataract are discussed. Some of the approaches which have been used in attempts to prevent or delay those abnormalities are reported as well. 相似文献
50.
Ahmet Baltalarli M.D. Erdal Coşkun M.D. Melih Hulusi Us M.D. Oya Rendeci M.D. Ragıp Ortaç M.D. Bekir Hayrettin Şirin M.D. 《The International journal of angiology》2000,9(3):183-187
The neuroprotective effect of trimetazidine (TMZ) on ischemic-reperfusion injury was tested by randomized, controlled, prospective study in a rat model of transient global cerebral ischemia. Thirty wistar albino rats were used for study. Animals in TMZ group (n=10) received trimetazidine (3 mg/kg IV bolus) before the occlusion of carotid arteries. A similar volume of saline solution was used in the control group (n=10). The sham group (n=10) were anaesthetized and subjected to operative dissections without vascular occlusion. Physiological parameters, somatosensory evoked potentials (SEP's) were monitored. The neurological outcomes had been clinically evaluated and scored up to 4 days post ischemia. The intergroup differences were compared. Histological observations were clearly correlated with the neurological findings. The percentage of damaged neurons in CA1 and CA3 in subfield of hypochampus 34±6% and 16±6% in the TMZ group, whereas it was 44±5% and 24±5% in the control group (p<0.05). The average neurologic score was significantly better in animals which received TMZ than in the controls at postoperative 24 hours (17.9±1.4 in the TMZ group and 14.9±1.6 in the control group, p<0.05). The results suggest that trimetazidine reduces cerebral injury and preserves neurological function in transient global ischemia in rats.The study was carried out in the Pamukkale University Research Laboratory and Department of Cardiovascular Surgery of Faculty of Medicine, Pamukkale University, Denizli, Turkey. 相似文献