Function, osteoarthritis and activity after ACL-rupture: 11 years follow-up results of conservative versus reconstructive treatment.

ACL-reconstruction aims to restore joint stability and prevent osteoarthritis; however, malfunction and osteoarthritis are often the sequelae. Our study asks whether ACL-reconstruction or conservative treatment lead to better long-term results. In this retrospective cohort study, 136 patients with isolated ACL-rupture who had been treated by bone-ligament-bone transplant or conservatively were identified. Twenty-seven of these were excluded because of a revision operation in the 11.1 years follow-up period, leaving 109 patients (60 reconstructions and 49 conservatively treated) for evaluation based on clinical, radiological and internationally accepted knee-scores (Tegner, IKDC, Kellgren and Lawrence). An individual cohort study is classified as EBM level 2b according to the Oxford Centre of EBM. We observed significantly better knee-stability (P = 0.008) but more osteoarthritis (Grade II or higher) after ACL-reconstruction (42% vs. 25%). Physical activity levels were similar in both groups during the follow-up period (P = 0.16). Eleven years after ACL-rupture the physical activity levels are similar for both groups. After ACL-reconstruction, stability is higher as is osteoarthritis, whereby the result is not necessarily perceived as better subjectively. Specifically, this retrospective study yielded a 24% incidence of oseoarthrits 11 years after conservative management of ACL-rupture in patients not needing secondary surgery. The risk of secondary meniscal tears is reduced after ACL reconstruction, which reduces the negative effects of OA after surgery. The ultimate objective would be to achieve a good subjective outcome by conservative treatment followed by a rehabilitation program designed to keep secondary meniscus tears at a low level.

Tunnel placement in anterior cruciate ligament (ACL) reconstruction: quality control in a teaching hospital.

Correct placement of the femoral and tibial bone tunnels is decisive for a successful anterior cruciate ligament (ACL) reconstruction. Our method of tunnel placement was evaluated as part of quality control at a teaching hospital. The emphasis was placed mainly on investigating the influence of surgical experience on tunnel placement, and the effect of tunnel position on the clinical outcome. Seventeen surgeons with different levels of experience (between 0 and >150 ACL reconstructions) performed endoscopic ACL repair in uniform technique from August 2000 to August 2003 on 50 patients (18 women, 32 men, age range 18-43 years). The patients were available to clinical and radiological follow-up after an average of 19 months. The clinical outcome was classified according to the International Knee Documentation Committee (IKDC) standard evaluation form. The femoral tunnel was evaluated according to the quadrant method of Bernard and Hertel; the position of the tibial bone tunnel was assessed according to the criteria of Stäubli and Rauschnig. The IKDC score revealed 47 (94%) patients with a normal (A) or nearly normal (B) knee joint at follow-up. According to the quadrant method, the femoral canal was situated on average at 29% in the saggital plane. The tibial tunnel was situated on average at 43% of the a.p. diameter of the tibial condyle. Statistical analysis of our data showed no significant correlation between tunnel placement and surgical expertise. However, a highly significant correlation was found (alpha<0.01) between the femoral position of the tunnel in the sagittal plane and the IKDC score. The more anterior the femoral canal, the poorer the IKDC score. The method of tunnel placement in ACL reconstruction being investigated here only showed slight dependence on surgical experience, whereby good short-term clinical outcomes were achieved. Therefore, the method is suitable for application at a teaching hospital. A far too anterior femoral tunnel placement will probably lead to a decline in the clinical result.

Products of advanced glycation in patients with type 2 diabetes and vascular disease.

BACKGROUND: Non-enzymatic glycation leading to advanced glycation endproduct (AGE) formation is thought to contribute to vascular pathology. In the present study, AGEs and anti-AGE antibodies in free and immune complex-bound form were assayed in the serum of diabetic (DMCAD) (n = 69) and nondiabetic (n = 78) patients with coronary artery disease (CAD) and in control subjects (n = 47) free from vascular disease. METHODS: A blocking enzyme-linked immunosorbent assay (ELISA) was used to test immunoreactivity against AGE epitope(s) and a competitive ELISA was used to measure total AGE content. RESULTS: Anti-AGE immunoreactivity was significantly higher in diabetic than in control subjects (P = 0.045). Although a wide range of anti-AGE antibody titres were observed in nondiabetic CAD patients, there was no significant difference from those of control subjects. Both diabetic and nondiabetic CAD patients had a higher concentration of circulating immune complexes containing the AGE moiety as antigen than did control subjects (DMCAD versus control, P = 0.041; CAD versus control, P = 0.047). Study patients showed a positive correlation between serum AGE and AGE-immune complexes (DM, r = 0.29, P = 0.014; CAD, r = 0.26, P = 0.019), whereas no such correlation was recorded in controls (r = 0.08, P = 0.89). CONCLUSION: To our knowledge, this is the first study demonstrating increased AGE-immune complexes in patients with CAD, either with or without diabetes, suggesting that AGE-immune complexes might be involved in the atherosclerotic process, either as the result of it or as part of the pathophysiologic process.

Soluble LDL-immune complexes in type 2 diabetes and vascular disease.

BACKGROUND AND AIMS: The oxidative modification of LDL has been shown to affect its clearance and to exert cytotoxic and immunogenic effects. The objective of our study was to analyse markers of LDL oxidation-soluble LDL containing immune complexes (LDL-ICs) in type 2 diabetes with micro- and macrovascular disease. PATIENTS AND METHODS: The study included 69 diabetic patients with coronary artery disease (DM + CAD), 78 non-diabetics with CAD, 47 controls, and 27 diabetics with nephropathy and 36 free from complications. OxLDL antibodies and advanced glycated end-products were measured by ELISA, and LDL-IC apo B content after PEG precipitation. RESULTS: Determination of a broad range of oxLDL antibody activity in all study groups showed no significant differences. In contrast, the content of apo B, a component of the antigen moiety of oxLDL-ICs, was higher in CAD and diabetes (+ CAD) than in LDL-ICs isolated from controls (p < 0.001). LDL-ICs did not differ between patients with CAD + DM and CAD patients free from diabetes. LDL-IC levels in diabetic patients with or without microangiopathy were significantly higher than in healthy volunteers (PEG-apo B 0.278 +/- 0.107 vs. 0.165 +/- 105 g/l, p < 0.002; PEG-IgG 151.7 +/- 76 vs. 115.4 +/- 62 g/l, p < 0.05). However, there was no significant difference in the level of circulating LDL-ICs between the subgroup of diabetic patients with nephropathy/retinopathy and patients free of microvascular disease (Ab-oxLDL 27.7 +/- 10.4 vs. 27.1 +/- 9.3 AU, NS; PEG-apo B 0.324 +/- 0.111 vs. 0.287 +/- 0.124 g/l, NS; PEG-IgG 1.68 +/- 0.68 vs. 1.42 +/- 0.80 g/l, NS). There was a statistically significant positive correlation between AGE content and LDL-ICs (r = 0.35, p < 0.009). A significant but inverse correlation was recorded between triglyceride concentration and level of LDL-ICs in DM + CAD (r = - 0.32, p < 0.016) and CAD patients (r = - 0.35, p < 0.002). A highly significant negative correlation between triglycerides and circulating LDL-ICs (r = - 0.54, p < 0.039) was observed in patients with early nephropathy, but not in those with physiological proteinuria. It is known that at a high triglyceride level in type 2 diabetes, the majority of LDL are small and dense, thus being more susceptible to oxidative modification. This could be a possible mechanism explaining why more LDL-ICs, with a level inversely correlating with triglyceride concentration, are generated in diabetes. CONCLUSION: The increased level of circulating LDL-ICs is a risk factor for the general population, including those with diabetes. Our results suggested the contribution of LDL-ICs to the development of atherosclerosis to probably be more significant than the direct contribution of oxLDLAb itself.

Lack of association between burning mouth syndrome and hematinic deficiencies.

The aim of our investigation was to evaluate possible connection between burning mouth syndrome and hematinic deficiencies, a hypothesis previously reported in the literature with contradictory results. Serum levels of iron, vitamin B12, folic acid, calcium and magnesium were determined in 41 (aged 31-87 years, mean 68,7 yrs) patients with burning mouth syndrome and 35 matched controls (35-83, mean 63 yrs). Serum iron levels were determined according to Fairbanks and Klee. Levels of vitamin B12 and folic acid were determined on commercially available kits (Imx12 and Imx folate assay, Abbot Park lab, IL, USA) on Imx analyser. Calcium and magnesium levels were determined using atomic absorption spectrophotometry. No statistically significant differences in serum levels of iron, folic acid, calcium and magnesium were found between patients with burning mouth syndrome and controls. Statistically significant lowered vitamin B12 levels were found in patients with burning mouth syndrome. Our results suggest that serum deficiencies of iron, folic acid, calcium and magnesium are not etiological factor in patients with burning mouth syndrome.

Lipoprotein lipase gene polymorphism and lipid profile in patients with hypertriglyceridemia.

AIM: To assess lipid profile and the genotype distribution of lipoprotein lipase gene polymorphism at Pvu II polymorphic site within the intron between exons 6 and 7 in patients with hypertriglyceridemia. METHODS: Pvu II polymorphism was determined in 116 hypertriglyceridemic patients and 50 normolipidemic controls from Zagreb, Croatia. DNA was extracted from peripheral blood mononuclear cells. Polymerase chain reaction was used for amplification of 6th intron, which was then restricted with Pvu II-restriction endonuclease. Serum lipid and lipoprotein fractions were determined by standard enzymatic methods. Cholesterol concentrations in HDL subfractions, HDL2 and HDL3, were determined after precipitation with polyethyleneglycol. Apolipoproteins (apo) A-I and B were determined by immunonephelometry. RESULTS: Triglycerides showed a positive correlation with total cholesterol (r=0.222, 95% CI=0.041-0.389, p=0.017) and inverse correlation with HDL-cholesterol (r= -0.278, 95% CI= -0.449 to -0.088, p=0.005), especially with HDL3-cholesterol (r= -0.333, 95% CI= -0.497 to -0.147, p=0.001). The respective frequencies for genotypes /, +/, and +/+ were 22, 58, and 36 in the patient group, and 17, 17, and 16 in the control group. Serum triglycerides in the patient group, expressed as median in mmol/L, were 3.30 (range, 2.60-10.90), 3.60 (range, 2.50-21.50), and 3.99 (range, 2.50-15.56), respectively. Serum concentration of triglycerides differed significantly between the +/+ and / genotype (p=0.043). CONCLUSION: There is an association between genetic variation at the locus for lipoprotein lipase and high serum triglyceride levels. This might prove useful in the detection of individuals susceptible to the development of hypertriglyceridemia, as well as a marker in the analysis of this genetic defect in patient families.

A novel missense mutation C127R (FH Zagreb) in the LDL-receptor gene.

We employed the analysis of single-strand conformation polymorphisms to identify mutations in exon 4 of the low density lipoprotein receptor gene causing familial hypercholesterolemia. Three familial hypercholesterolemia heterozygotes had abnormal single-strand conformation polymorphism patterns. DNA sequencing revealed that the abnormal pattern of exon 4A was due to heterozygosity (T/C) at nucleotide 442. Nucleotide 442 is the first base of codon 127, and the T-->C mutation (C127R) changes this codon from CysTGT to ArgCGT. Abnormal patterns of exon 4B were due to heterozygosity (A/G) at nucleotide 662: nucleotide 662 is the second base of codon 200, and the A-->G mutation (D200G) changes this codon from AspGAC to GlyGGC. Mutation D200G was previously described as FH Padova, but mutation C127R (FH Zagreb) has not been reported previously. This novel mutation was confirmed by restriction endonuclease analysis with Dsa I. The screening of 420 familial hypercholesterolemia heterozygotes suggests that C127R and D200G account for about 0.7% of mutations causing familial hypercholesterolemia in Croatia.

Genetic markers of male infertility: Y chromosome microdeletions and cystic fibrosis transmembrane conductance gene mutations.

Today, approximately 15% of couples have reduced fertility. In most cases the reason is male infertility, usually of genetic origin. Thus, in the context of research in genes involved in reproduction and sex determination, genetic defects in gametogenesis are being extensively studied. The most frequent pathogenic causes of male infertility are Y chromosomal microdeletions and obstructive azoospermia due to congenital absence of the vas deferens (CAVD) in the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We have investigated the most common CFTR gene alterations in Croatian men with CAVD, using Roche research prototype assays. Results revealed that the 5T variant was present in 27% of the subjects. The F508 deletion was found in 21% of the subjects. It was the most frequent mutation, although its incidence was much lower than among patients with cystic fibrosis. The prevalence of microdeletions in the azoospermia factor region (AZF) of the Y chromosome in Croatia was 4.5%. This is the first report of Y microdeletions in the Croatian population. Genetic counseling of all couples with the diagnosis of male infertility is recommended before intrauterine insemination, in vitro fertilization, and intracytoplasmic sperm injection, and should also include AZF and CFTR genotyping. Couples requesting assisted reproductive treatment should be offered molecular analysis of the CFTR gene, if male infertility due to obstructive azoospermia is the underlying cause. Also, men with severe oligozoospermia or non-obstructive azoospermia seeking assisted reproductive treatment should be screened for deletions in the Y chromosome.

Prevalence and association of the factor V Leiden and prothrombin G20210A in healthy subjects and patients with venous thromboembolism.

AIM: To determine the prevalences of factor V Leiden and the G20210A mutation in the prothrombin gene (PT20210A) and the frequency of their association in healthy subjects and in patients with venous thromboembolism (VTE). METHOD: We studied 160 Croatian patients with at least one episode of VTE and 155 healthy subjects as a control group. Genomic DNA was extracted according to standard procedures and the presence of factor V Leiden and PT20210A were determined by polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The prevalences of factor V Leiden and PT20210A were in VTE patients 21% and 8% respectively, and 4% in controls for both mutations. Additionally, 4 patients were affected by double heterozygous defects, corresponding to a frequency of 3%, whereas none of the controls were double heterozygotes. The coexistence of the PT20210A in heterozygous carriers of factor V Leiden was 15% in VTE group. The results obtained for different subgroups of VTE patients showed that the carriers of analyzed mutations were identified only in subgroups of patients with deep venous thrombosis of lower extremities (in 30 patients with factor V Leiden and in 13 patients with PT20210A) and superficial venous thrombosis (in 3 patients with factor V Leiden). CONCLUSION: The prevalences of factor V Leiden and PT20210A in analyzed population of VTE patients are higher than in the group of healthy subjects. High frequency of association between both mutations supports the need to perform simultaneous genetic analyses of factor V Leiden and PT20210A in all VTE patients.

Treatment of acute cholecystitis. A comparison of open vs laparoscopic cholecystectomy.

BACKGROUND: In this study, the clinical results and cost-effectiveness of open vs laparoscopic cholecystectomy in the treatment of acute cholecystitis were compared. METHODS: Over a 5-year period (1994-98), 894 cholecystectomies were performed, 545 (60.96%) of them laparoscopically and 349 (39.04%) by the open method. The study included 209 patients with a clinical diagnosis of acute cholecystitis; 115 (55.02%) of them were operated on by the open method and 94 (44.98%) by the laparoscopic method. RESULTS: A comparison analysis revealed that the mean postoperative treatment period was 8.40 days after open and 4.38 days after laparoscopic cholecystectomy. In the group operated on by the open method, 106 patients received an antibiotic, a mean of 5.09 ampules and 3.2 tablets or suppositories of an analgesic, and 2.91 dressings per patient; whereas in the group submitted to the laparoscopic method, the comparable figures were 43, 3.13, 2.1, and 1.47, respectively. In 31 (26.96%) employed patients operated on by the open method, the mean absenteeism from work was 42 days; whereas in 31 (32.98%) of those operated on by the laparoscopic method, it was 17 days. The mean operating times for the procedures were 89 and 115 min for the open and laparoscopic methods, respectively. Two patients submitted to open cholecystectomy died within 30 days postoperatively. Wound infection was recorded in 10 (8.7%), prolonged biliary secretion in two, and cicatricial hernia in five (4.35%) patients. In the group submitted to laparoscopic cholecystectomy, there were no deaths; nine (9.57%) conversions were required; four patients had to be reoperated on, two of them for bile lobe hemorrhage and two for massive biliary secretion from the open cystic duct; herniation at the site of supraumbilical incision developed in three patients, and infection developed at the same site in two (2.13%) patients. The hospital cost was significantly higher in laparoscopic patients ($1181 vs $873) USD), as was the total cost of treatment for acute cholecystitis ($1430 vs $1316). However, the cost for sick leave and rehabilitation was significantly lower in laparoscopically treated patients ($486 vs $1199). CONCLUSIONS: Our comparison analysis of the results and cost-effectiveness of the surgical treatment of acute cholecystitis clearly pointed to the advantages of laparoscopic over open cholecystectomy-i.e., better clinical outcome and a more rapid resumption of daily activities. Hospital and total costs of treatment were on average higher in laparoscopic patients, except for the employed ones, where the lower sick leave cost translated into a significant reduction in total costs.

A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.

Hearing loss in patients with X-linked agammaglobulinemia is often attributed to recurrent infections. However, recent genetic studies suggest a different etiology in some patients. We present three unrelated patients, 6, 9, and 14 years of age, with large deletions of the terminal portion of the Bruton tyrosine kinase (Btk) gene extending 4.2-19 kb beyond the 3' end of the gene. The DNA immediately downstream of the 3' end of Btk contains the deafness-dystonia protein gene (DDP). Mutations in this gene have recently been shown to underlie the Mohr-Tranebjaerg syndrome, which is characterized by sensorineural deafness, dystonia, and mental deficiency. Besides the immunodeficiency, our patients exhibited progressive sensorineural deafness. The clue to an associated hearing problem was delayed development of speech in one patient and post-lingual deafness noticed between the age of 3-4 years in the other two. These patients have not yet exhibited significant associated neurologic deficits.

Apolipoprotein E polymorphism and serum concentration in Alzheimer's disease in nine European centres: the ApoEurope study. ApoEurope group.

As part of the ApoEurope Project, apolipoprotein E (apo E) common polymorphism and serum concentration were determined in 489 Alzheimer's disease patients and 429 controls. Patients and controls were recruited through nine centres in eight European countries. Age, sex ratios and education levels of both case and control populations were similar, although discrete differences appeared between centres. The prevalence of the epsilon4 allele was higher in Alzheimer's disease than in controls (increased by 140%), while serum apo E concentration was lower by 11.2% (p<0.001). In addition, serum total cholesterol and triglyceride concentrations were lower in Alzheimer's disease (p<0.001), while that of apo Al was not affected. The decrease in serum apo E concentration was not accounted for by the epsilon4 allele, age or gender, suggesting that apo E concentration might represent an additional risk factor for Alzheimer's disease, complementary and independent of the epsilon4 allele. Further analysis will be aimed at determining whether the quantitative link between apo E concentration and Alzheimer's disease occurs through the effect of apo E genotype on lipid parameters or by other mechanisms.

Improvement of early functional atherosclerotic changes in males with hypercholesterolemia after vitamin E supplementation.

Vitamin E as an antioxidant vitamin reduces the susceptibility of low-density lipoprotein (LDL) cholesterol to oxidation and may have antiatherosclerotic effects. We tested the hypothesis that six months of 400 mg vitamin E supplementation favourably affects early functional changes in atherosclerotic process in subjects with hypercholesterolemia. The diameter of the brachial artery at rest, after reactive hyperemia (representing endothelium-dependent vasodilatation) and after sublingual glyceryl-trinitrate (representing endothelium-independent vasodilatation), were determined by ultrasonographic method (B mode) before and after the intervention period. After the intervention period the brachial endothelium-dependent vasodilatation increased significantly in the vitamin E group while it did not change in the placebo group. In conclusion, six months of oral vitamin E supplementation results in improvement of the endothelium-dependent vasodilatation in men with hypercholesterolemia.

Evaluation of the Olympus AU 400 clinical chemistry analyzer.

The performance of the Olympus AU 400 clinical chemistry analyzer was evaluated according to the guidelines of the European Committee for Clinical Laboratory Standards. The following analytes were tested: glucose, urea, creatinine, calcium, AST, ALT, CK, LDH, ALP and amylase. The Olympus AU 400 was compared with the Olympus AU 800. Coefficients of correlation showed high correlation between the compared analyzers. Other performances (intra- and inter-assay variation, carry-over and interferences) of the analyzer were satisfactory.

[In situ PCR in the diagnosis of acute leukemia]. / PCR in situ u dijagnostici akutnih leukemija.

Cytomorphologic and cytochemical bone marrow analysis is essential in the diagnosis of acute leukemia. Immunophenotyping and conventional cytogenetics, just as fluorescent in situ hybridization (FISH) are other diagnostic procedures, as well as genome analysis by PCR (polymerase chain reaction). PCR is inevitable in searching for minimal residual disease, because it may detect very small amount of malignant hematopoietic cells even when a patient is in complete remission (less than 5% malignant cells in bone marrow and disappearance from peripheral blood) which helps better monitoring of patients. By in situ hybridization (ISH) it is possible to associate specific cell type with genome alteration, but the method is not sensitive enough. By combining ISH and PCR a novel technique with increased sensitivity was developed, PCR in situ, which enables nucleic acid amplification in an intact cell. In this case report we present two patients whose bone marrow aspirates were analyzed also by PCR in situ.

Effect of different daily doses of gizzerosine on the serum 1,25-dihydroxycholecalciferol concentration in laying hens.

Five groups of laying hens were treated with different gizzerosine doses (0, 2.5; 5.0; 7.5; 10.0 mg/kg/body weight of gizzerosine) daily over a 21-day period to determine the serum concentrations of 1.25-dihydroxycholecalciferol (1,25(OH)2D), total calcium, inorganic phosphorus and magnesium. Blood samples were taken on days 7, 14, and 21 of the experiment. The concentration of 1,25(OH)2D remained unchanged after day 7 in the gizzerosine-treated birds compared to the control group. After 14 days, it was significantly lower in the birds receiving. gizzerosine, compared with the control group. On day 21, 1,25(OH2)D concentrations were also significantly decreased in all 4 gizzerosine-treated groups compared with the control hens. The serum total calcium, inorganic phosphorus and total magnesium concentrations varied significantly, but irregularly, during the period of the study.

Inflammatory mediators in saliva of patients with rapidly progressive periodontitis during war stress induced incidence increase.

Rapidly progressive periodontitis (RPP) results from the interaction between the periodontal microflora and the host. Stress is believed to play an important role in determining host responses, and it has been proposed that hyperactivity of host defense mechanisms significantly increases tissue destruction typical for this disease. During a period of four months we have diagnosed 20 patients with acute RPP, all of them active participants in battles of the Croatian liberation war with posttraumatic stress disorder (PTSD) related symptoms. In these patients we analyzed biochemical parameters in unstimulated saliva and performed microbiological analyses of periodontal pockets. These findings were compared with those of patients with adult periodontitis (AP), edentulous and healthy persons, none of whom participated in the war. Persons with AP had reduced concentrations of host humoral defense factors in saliva (C-reactive protein, C3 component of complement, and aplha alpha 2-macroglobulin), while patients with RPP had increased concentration of interleukin-6 (IL-6). IL-6 is released by host inflammatory cells and is a mediator of bone resorption. Actinobacillus actinomycetemcommitans and Peptostreptococcus were more frequently isolated from patients with RPP. We interpret these results as indicators of the importance of stress in the causation of RPP, with host inflammatory hyperactivity playing an important role in tissue destruction, specially alveolar bone resorption possibly caused by increased local levels of IL-6.

The usefulness of biochemical bone markers in predicting the response of hormone replacement therapy in perimenopausal cigarette smoking healthy women.

The purpose of our study was to evaluate the effects of orally administered combined sequential estradiol (2 mg 17 beta estradiol) with progestin (1 mg norethisteron acetate) daily during ( +/- SD) 15.34 +/- 13.89 months on bone markers in perimenopausal cigarette smoking women. The control group consisted of cigarette smoking perimenopausal women without hormone replacement therapy (HRT). The following biochemical bone markers were analyzed in hormone replacement users (N = 35) and non-users (N = 28): serum total calcium (Ca), total alkaline phosphatase (ALP), procollagen I C-terminal propeptide (PICP), cros-linked carboxyterminal collagen I telopeptide (ICTP) and osteocalcin (OC). When we compared the results of bone markers in the cigarette smoking current users and non cigarette smoking non-users, we found statistically significant lower levels of bone formation markers, ALP and OC, and lower level of bone resorption marker; ICTP in users than in non-users. In perimenopausal cigarette smoking women on HRT lower levels of new biological markers reflected less intensive bone remodelling and probable decrease in bone loss than in non-users. These results indicate that the measurement of biological bone markers are useful to identify risk women for osteoporosis who may have special benefit from the treatment with hormone replacement therapy, even when they smoke.

Incidence of chromosomopathies and cystic fibrosis mutations in second trimester fetuses with isolated hyperechoic bowel.

OBJECTIVE: Fetal echoic bowel can be a normal second trimester ultrasonographic finding which usually disappears by 20 weeks on serial sonograms. Recent studies have suggested a possible association of hyperechoic fetal bowel with chromosomopathies and cystic fibrosis. The aim of our study is to determine the incidence of chromosomopathies and cystic fibrosis mutations among the fetuses with isolated hyperechoic bowel. METHODS: Sixteen fetuses with isolated echoic bowel were detected: 13 fetuses < or =20 weeks gestation (group I) and 3 fetuses at 20-26 weeks gestation (group II). Cytogenetic studies were performed in all 16 cases and 11 families had deoxyribonucleic acid-based risk assessment for cystic fibrosis. The echogenity of bowel was that of surrounding bone. RESULTS: Two cases of trisomy 21 and 1 case of trisomy 13 were detected (18.7%). The other ultrasonographic markers begin to appear after 21 weeks gestation in fetuses with trisomy 13. Two of 3 pregnant women with pathological karyotype were younger than 35 years. One of 11 cases (9%) was found to be a heterozygote carrier for deltaF508 mutation. CONCLUSIONS: Isolated hyperechoic bowel in the second trimester was found to be associated with a significantly higher risk of fetal aneuploidy.