Serum pregnancy-associated glycoprotein profiles during early gestation in Karya and Konya Merino sheep.

BACKGROUND: Reported as being expressed by mono- and binucleate placental cells, pregnancy-associated glycoproteins (PAGs) are released into the blood circulation from the ruminant placenta. Circulating gestational PAGs levels may differ between sheep breeds. OBJECTIVE: This study was aimed at the close monitoring of the serum PAGs profiles of Karya and Konya Merino sheep during early pregnancy. METHODS: Fifteen Karya and 15 Konya Merino ewes were synchronized by a 12-day treatment with progesterone-impregnated intravaginal sponges. After the sponges were withdrawn, the ewes were administered 400 IU of equine chorionic gonadotropin. The ewes were allowed to mate naturally, and all animals were sampled for blood as of the day of mating (day 0) at weeks 1, 2, 3, 4 and 5. Pregnancy diagnoses were made by transabdominal ultrasonography at week 5. At weeks 6, 7, 8, 9 and 11, blood samples were collected only from the pregnant ewes. The blood samples were centrifuged at 3000 × g, and extracted sera were stored at -20°C until being used for laboratory analyses. Serum PAGs levels were determined with the aid of a commercial PAG-enzyme-linked immunosorbent assay test originally developed for pregnancy diagnosis in cattle. Differences in the between the PAGs levels throughout pregnancy and the group effect (Karya and Konya Merino) were determined with a two-way mixed analysis of variance. Pairwise comparisons were made using a Bonferroni adjustment. RESULTS: PAGs levels showed a linear increase with the advance of pregnancy in both Karya and Konya Merino sheep. No difference was detected between the breeds for serum PAGs levels. The serum PAGs levels of the pregnant and non-pregnant ewes differed as of the fourth week. CONCLUSION: The serum PAGs levels of the Karya and Konya Merino ewes were similar during the first 11 weeks of gestation, and pregnancy diagnosis could be made based on serum PAGs levels as of the 4th week in both breeds.

The role of nutritional-immunological indices in estimating serum LPS and antioxidant enzyme activity and sepsis status in female dogs with pyometra caused by E. coli.

The aim of this study was to diagnose pyometra and related sepsis status using cost-effective nutritional-immunological indices, antioxidants, and toxin levels in dogs and to investigate the utility of the indices in predicting toxin and antioxidant status. A total of 29 dogs were enrolled into the present study. Among these, 9 female dogs in their diestrus stages, were allocated for elective ovariohysterectomy. The pyometra group was also separated into two subgroups as Sepsis (+) and Sepsis (-). Blood samples were collected into two tubes containing EDTA for hematological analysis; without anticoagulant for serum progesterone, LPS concentration, and antioxidant levels at the time of diagnosis. Bacteriological and tissue samples of the uterus were collected after the ovariohysterectomy. Antioxidant activity, progesterone, and toxin concentration were determined by using commercial ELISA kits. Statistical analyses were performed using Stata version 16.1 and MedCalc 16 statistical software. Receiver operating characteristics curves were used for the threshold for evaluating pyometra and sepsis status. Pairwise comparisons were carried out of the area under the curve (AUC) for thresholds of nutritional immunologic indices (hemoglobin, albumin, lymphocyte, platelet (HALP) score; prognostic nutritional index (PNI); Albumin hemoglobin index (AHI)), serum LPS and antioxidant activity. Linear regression model was used for the estimation of serum LPS and antioxidant activity by using indices. Mean serum progesterone, LPS concentrations, and Nitric Oxide (NO) production were greater, while serum superoxide dismutase (SOD), tissue SOD, and glutathione peroxidase (GPx) activities were lower in dogs with pyometra. All nutritional-immunologic indices were lower in pyometra cases. Nutritional-immunologic indices (AUC of HALP:0.759; PNI:0.981; AHI 0.994), NO (AUC: 0.787) and SOD (AUC: 0.784) levels were useful for pyometra diagnosis. AHI and LPS were useful for the determination of sepsis status with the AUC values of 0.850 and 0.740, respectively. While AHI was useful for the estimation of serum LPS and NO concentration (p < 0.001), PNI was useful for serum SOD concentration (p = 0.003). In conclusion, PNI, HALP and AHI can be used in the diagnosis of pyometra, however, only AHI and LPS levels can be used in the diagnosis of sepsis. SOD and NO can be used to determine pyometra but have no effect on determining sepsis status. Additionally, the estimation of the levels of serum LPS, NO, and SOD activities can be done using the AHI and PNI values.

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Overgrowth-intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the molecular etiology and long-term follow-up findings of Turkish OGID cohort. Thirty-five children with OGID were included in the study. Single gene sequencing, clinical exome analysis, chromosomal microarray analysis and whole exome sequencing were performed. Five pathogenic copy number variants were detected in the patients; three of them located on chromosome 5q35.2 (encompassing NSD1), others on 9q22.3 and 22q13.31. In 19 of 35 patients; we identified pathogenic variants in OGID genes associated with epigenetic regulation, NSD1 (n = 15), HIST1H1E (n = 1), SETD1B (n = 1), and SUZ12 (n = 2). The pathogenic variants in PIK3CA (n = 2), ABCC9 (n = 1), GPC4 (n = 2), FIBP (n = 1), and TMEM94 (n = 1) which had a role in other growth pathways were detected in seven patients. The diagnostic yield was 31/35(88%). Twelve pathogenic variants were novel. The common facial feature of the patients was prominent forehead. The patients with Sotos syndrome were observed to have milder intellectual disability than patients with other OGID syndromes. In conclusion, this study showed, for the first time, that biallelic variants of SUZ12 caused Imagawa-Matsumoto syndrome, monoallelic variants in SETDIB resulted in OGID. Besides expanded the phenotypes of very rare OGID syndromes caused by FIBP and TMEM94.

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

BACKGROUND: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. METHODS: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2-21 years. COL10A1, RMRP sequencing and whole exome sequencing were performed. RESULTS: Results: Seven heterozygous pathogenic variants in COL10A1 were detected in 17 patients with Schmid type metaphyseal chondrodysplasia(MCDS). The phenotype was more severe in patients with heterozygous missense variants (one in signal peptide domain at the N-terminus of the protein, the other, class-1 group mutation at NC1 domain) compared to the patients with truncating variants. Short stature and coxa vara deformity appeared after 3 and 5 years of age, respectively, while large femoral head resolved after the age of 13 years in MCDS group. Interestingly, one patient with severe phenotype also had a biallelic missense variant in NC1 domain of COL10A1. Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities. Unlike previously reported patients, this patient had ectodermal findings, similar to CHH. A biallelic COL2A1 mutation was also found in the patient with lower limb deformities and metaphyseal involvement without vertebral and epiphyseal changes. CONCLUSION: Long-term clinical characteristics are presented in a metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. We also point out that the domains where mutations on COL10A1 take place are important in the genotype-phenotype relationship.

The Correlation of Cord Arterial Blood Gas Analysis Results and Apgar Scores in Term Infants Without Fetal Distress.

OBJECTIVE: This study aimed to evaluate the necessity of cord arterial blood gas analysis in cases without fetal distress and normal Apgar score. MATERIALS AND METHODS: The cord arterial blood gas analysis and the 1- and 5-minute Apgar scores data of 1438 cases were evaluated. Newborns with fetal distress, neonates requiring cardiopulmonary resuscitation in the delivery room, congenital anomalies, severe and moderate acidemia (pH ≤7.1 at cord arterial blood gas analysis), and pre- and post-term newborns are excluded. Following cord arterial blood gas analysis, threshold values were accepted as abnormal pH <7.2, base excess ≥ -6 mmol/L, lactate ≥ 5 mmol/L, bicarbonate < 18 mmol/L, and partial pressure of carbon dioxide ≥ 50 mmHg. We evaluated the correlation between cord arterial blood gas analysis and 1- and 5-minute Apgar scores. RESULTS: There was a significant correlation between both 1- and 5-minute Apgar scores and cord arterial blood gas analysis values such as pH, lactate, and partial pressure of carbon dioxide (P < .001). In addition, a significant correlation was found between the 5-minute Apgar score of <7 and some cord arterial blood gas analysis abnormal threshold values (pH, bicarbonate, base excess) (P < .001). We found that some patients with mild acidemia had 1- and 5-minute Apgar scores of ≥7 in 1.9% and 2% of cases, respectively. CONCLUSION: The 5-minute Apgar score of 7 or higher may not be sufficient to verify the wellbeing of a newborn. Relying only on the Apgar scores may create the risk of missing some newborns with mild metabolic acidosis. The necessity of routine cord arterial blood gas analysis should be considered in prospective studies even if there are no signs of fetal distress and Apgar score ≥7.

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.

3M syndrome is characterized by severe pre- and post-natal growth restriction, typical face, slender tubular bones, tall vertebral bodies, prominent heels and normal intelligence. It is caused by biallelic variants of CUL7, OBSL1 and, more rarely, CCDC8. The aim of this study is to evaluate facial and skeletal findings in 3M patients from neonatal period to adulthood. A total of 19 patients with a median age of diagnosis of 9.2 months were included in this study and were followed for two to 20 years. CUL7 and OBSL1 variants were found in 57.9% and 42.1% of patients, respectively, five of which are novel. Most of patients had triangular face, frontal bossing, short fleshy nose, full fleshy lower lip, transverse groove of rib cage, hyperlordosis and prominent heels. Three new early-diagnostic signs were observed in infants; two were infraorbital swelling of the lower lid and facial infantile hemangioma, both of which became less pronounced with aging. The third was the central tubercle of the upper lip that became more prominent with in time. While slender long bones did not change with aging, the tall vertebral bodies became more prominent radiologically. The mean birth length in patients was -4.3 SDS. Eight patients reached a mean final height of -4.9 SDS. Despite described growth hormone (GH) insensitivity in 3M syndrome, 12 patients either with GH deficiency or with normal GH levels were treated with GH; seven patients responded with an increase in height SDS. This study not only provided early diagnostic signs of the syndrome, but also presented important follow-up findings.

Predictive value of pupillography on intraoperative floppy iris syndrome in preoperative period.

AIM: To present the frequency of intraoperative floppy iris syndrome (IFIS) in cataract patients who taking alpha 1-a receptor antagonist (ARA) drugs, and evaluate the predictive value of pupil diameter (PD) changes in IFIS patients. METHODS: Male cataract patients who are under treatment with alpha-1a-ARAs (alfuzosin, tamsulosin) intraoperatively were evaluated and were grouped as with/without IFIS. The preoperative PD values were compared with controls. Also, the intraoperative manipulations and early/late complications were recorded. RESULTS: A total of 77 patients (77 eyes) of 94 benign prostate hyperplasia (BPH) patients have been defined as IFIS (81.91%) and 40 patients (40 eyes) were taking tamsulosin and 37 patients (37 eyes) were taking alfuzosin. During the cataract surgery, the rate of posterior capsular rupture (P=0.754), vitreous loss (P=0.585), iris tears (P=0.004), and iris catching (P=0.000) were higher in IFIS group, but the difference was significant only in the iris catching. At the postoperative first-month visit, persistent IOP rise and iris stromal tears were more frequent in IFIS group, but the difference was not significant (P=0.311, P=0.146; respectively). In contrast, Descemet membrane detachment was insignificantly more frequent in controls (P=0.311). In IFIS and control patients, PDs were 9.54±1.78 and 9.72±1.57 mm (P=0.255) under scotopic illumination, 8.54±1.43 and 8.74±1.25 mm (P=0.289) under mesopic illumination, 6.99±1.35 and 7.27±1.39 mm (P=0.662) under photopic illumination, respectively. However PDs were lower in IFIS under all illumination degrees, no significant difference was detected between groups. CONCLUSION: IFIS is a significant clinical syndrome with an increased intraoperative/postoperative complication ratio. The prediction of this syndrome is important because of prevention required precautions against possible complications. There is no association between IFIS and preoperative PD.

Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.

Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder, characterized by macroglossia, abdominal wall defects, lateralized overgrowth, and predisposition to embryonal tumors. It is caused by the defect of imprinted genes on chromosome 11p15.5, regulated by imprinting control (IC) domains, IC1, and IC2. Rarely, CDKN1C and chromosomal changes can be detected. The aim of this study is to retrospectively evaluate 55 patients with BWS using the new diagnostic criteria developed by the BWS consensus, and to investigate (epi)genetic changes and follow-up findings in classic and atypical phenotypes. Loss of methylation in IC2 region (IC2-LoM), 11p15.5 paternal uniparental disomy (pUPD11), and methylation gain in IC1 region (IC1-GoM) are detected in 31, eight, and five patients, respectively. Eleven patients have had no molecular defects. Thirty-five patients are classified as classical and 20 as atypical phenotype. Patients with classical phenotype are more frequent in the IC2-LoM (25/31), while patients with atypical phenotype are common in the pUPD11 group (5/8). Malignant tumors have developed in six patients (10.9%); three of these patients have IC1-GoM, two pUPD11, one IC2-LoM genotype, and four an atypical phenotype. We observed that the face was round in the infantile period and elongated as the child grew-up, developing prognathism and becoming asymmetrical if hemi-macroglossia was present in the classical phenotype. These findings were mild in the atypical phenotype. These results support the importance of using the new diagnostic criteria to facilitate the diagnosis of patients with atypical phenotype who have higher tumors risk. This study also provides important information about facial gestalt.

Detection of progressive and regressive phase and LINE-1 retrotransposon in transfected dogs with transmissible venereal tumor during chemotherapy.

Canine transmissible venereal tumor (CTVT) is a tumor that commonly occurs in genital and extragenital sites of both genders. Long interspersed nuclear elements (LINE-1) retrotransposon has a pivotal role in allogenic transfection among uncontrolled dog populations. This study aimed to perform pathomorphological, immunohistochemical, and in situ polymerase chain reaction (PCR) evaluation of CTVT (n = 18) in transfected dogs during chemotherapy. Immunohistochemically, tumor phases were investigated by using specific markers (CD3, CD4, CD8, CD79, and transforming growth factor beta [TGF-ß]), and investigated an amplified specific sequence of TVT LINE-1 retrotransposon by in situ PCR. Polyhedral-shaped neoplastic cells that had large, round, hypo/hyperchromatic nuclei and eosinophilic cytoplasm were detected. All marker results were positive, especially in the early weeks of recovery. CD4 and TGF-ß markers were conspicuously positive at the initial stage. In situ PCR LINE-1 sequence was initially positive in only four cases. It is believed that the CD and TGF-ß markers provide phase identification at tumor initiation and during chemotherapy. It is thought that presence of T and B lymphocytes, which have roles in cellular and humoral immunity, is needed so that regression of the tumor is possible.

Surgical management of 58 patients with placenta praevia percreta.

OBJECTIVE: The aim of this study is to present our experience with surgical management of placenta praevia percreta. METHODS: This study was conducted from January 2009 through March 2014 at Harran University Hospital and was a chart review of all patients who underwent caesarean hysterectomy with the placenta left in situ for placenta praevia percreta. RESULTS: The study group comprised 58 patients. All of the patients underwent ultrasound mapping of the placental area before surgery. Emergent caesarean hysterectomy was only performed in 9 patients; 49 patients underwent planned caesarean hysterectomy. Bilateral internal iliac artery ligation was performed in all cases. Four patients (6.9 %) had bladder damage, one patient (1.7 %) required cystotomy, and one patient (1.7 %) required re-operation because of postoperative hemorrhage. The mean operative time was 141.6 (range: 95-355) minutes. Only 17 (29.3 %) patients were administered more than four units of red blood cells. There was no ureteral damage or maternal death. Furthermore, there were no complications in 42 (72.4 %) patients. CONCLUSIONS: Caesarean hysterectomy for placenta praevia percreta is associated with increased maternal morbidity. However, preoperative diagnosis of placenta praevia percreta, ultrasound mapping of the placenta, and the presence of a multidisciplinary experienced team may decrease maternal morbidity and mortality. Moreover, the urinary system may be protected in the patients with placenta praevia percreta without serious morbidity.

Can circulating M30 and M65 levels be beneficial markers in the diagnosis and management of patients with complete hydatidiform mole?

OBJECTIVE: The objective of this study is to evaluate the prognostic value of M30 and M65 levels as markers of apoptotic activity and maternal serum oxidative stress in patients with complete hydatidiform mole (CHM). METHODS: In total, 68 pregnant women were included in the study. The study group included 34 pregnant with CHM, while 34 healthy pregnant were employed as a control group. Venous blood samples were drawn to assess the maternal serum oxidative stress and M30-M65 levels. In addition, a second blood sample was drawn from patients with CHM on day 8 after dilatation evacuation. RESULTS: Maternal serum oxidative stress and M30-M65 levels were found to be significantly higher in patients with CHM as compared with the control group. It was found that serum ß-subunit of human chorionic gonadotropin (ß-hCG) level had a significant positive correlation with M30-M65 levels in patients with CHM. In addition, serum M65 level was found to be as effective as ß-hCG in the identification of the patients with CHM. CONCLUSION: Our results indicated that oxidative stress and apoptosis may play significant roles in CHM development. In addition, it seems that serum M30-M65 levels can presumably be an ancillary laboratory test to ß-hCG in the diagnosis and follow-up of the patients with CHM.

Assessment of Apoptotic Activity Dysregulation and Oxidative Stress in the Development of Epithelial Ovarian Cancer: A Case-Controlled Descriptive Analysis.

AIM: In the present study, we aimed to assess whether oxidative stress and apoptotic activity play a role in the development of epithelial ovarian cancer (EOC). METHODS: The study group included patients with EOC (n = 26) and benign ovarian tumour (BOT) (n = 25), while 30 healthy women were employed as a control group. Venous blood samples were drawn to evaluate oxidative stress parameters and serum M30/M65 antigen levels before surgery. In addition, blood samples were taken for the second time on postoperative day 8 to analyse whether the postoperative tumour load was decreased. RESULTS: When the groups were assessed regarding oxidative stress, the highest values were detected in patients with EOC. Serum M30/M65 levels were found to be higher in patients with EOC when compared to the other groups (p < 0.001). A significant decrease was determined in the M30/M65 levels of serum samples taken on postoperative day 8 from the patients in the EOC and BOT groups (p < 0.001). CONCLUSION: Our results suggest that dysregulation of apoptotic activity could be effective in the development of ovarian tumoural tissue, whereas oxidative stress could be effective in malignant transformation.

Plasma D-dimer level in the diagnosis of adnexal torsion.

OBJECTIVE: To date, there is no clinical or laboratory examination particular to adnexal torsion (AT); therefore, the objective of this study was to evaluate whether the plasma D-dimer level has any merit in establishing a diagnosis in AT patients. MATERIALS AND METHODS: In total, 34 women who underwent laparoscopic surgery due to adnexal mass were incorporated into our study. While the study group consisted of 14 women operated on due to AT, the control group comprised of 20 patients operated on due to benign ovarian cysts. In order to study the plasma D-dimer level during the pre-operative period, venous blood samples were obtained from all the women who participated in this study. RESULTS: The plasma D-dimer level in the AT group was seen to be significantly higher than that of the control group (2.20 ± 1.71 µg/ml, 0.43 ± 0.21 µg/ml, p = 0.002, respectively). When the cut-off value for the D-dimer level was taken as 0.65 µg/ml, the sensitivity in determining the AT was found to be 71.4%, whereas the specificity was 85%. CONCLUSIONS: The results obtained from our present study suggest that the plasma D-dimer level could be a supplementary laboratory examination in establishing diagnoses in AT patients.

Myomectomy during caesarean: a retrospective evaluation of 16 cases.

AIM: To evaluate the results and complications of myomectomy carried out during caesarean section. MATERIALS AND METHOD: A retrospective study of 16 patients who underwent myomectomy concurrently with caesarean section in our clinic between January 2009 and September 2012 was conducted. The pre- and postoperative haemoglobin values, number, size and total volume of excised fibroid nodules, location of fibroids, duration of operation, and duration of hospital stay of all patients were retrospectively investigated. RESULTS: While the most common leiomyoma was transmural myoma, with ten cases encountered, the most common location was in the corpus anterior, where transmural myomas were seen in five patients. The volume of the excised leiomyomata ranged from 84 to 3.300 cm³. The average preoperative haemoglobin value of our patients was 11.4 g/dl, while the postoperative value was 10.3 g/dl. Of 16 patients included in the study, two required blood transfusions due to excessive bleeding. Uterine defects caused by the myomectomy were closed without problems in all patients, and no patient required a hysterectomy. The average time for the myomectomy and caesarean section procedure was 56.1 min. All patients were discharged without problems an average of 3.25 days after the operation. CONCLUSION: Myomectomy carried out during caesarean section is a trusted surgical intervention regardless of the size of leiomyomata.

Relationship between oxidative stress parameters and cystatin C levels in patients with severe preeclampsia.

BACKGROUND AND OBJECTIVE: Oxidative stress is believed to play a role in the development of preeclampsia (PE). It is known that an increased cystatin C level is also associated with PE. The aim of this study was to investigate the relationship between oxidative stress parameters and cystatin C levels in patients with severe PE. MATERIAL AND METHODS: Forty-four patients with severe PE and 40 healthy pregnant women were recruited for the study. All study subjects were divided into 2 groups: group 1 (n=44) consisted of patients with severe PE, and group 2 (n=40) included healthy pregnant subjects. Blood samples were obtained from all subjects in order to measure the cystatin C level, total antioxidant status, and total oxidant status. The oxidative stress index was calculated. RESULTS: The group 1 had significantly higher cystatin C, total oxidant status, oxidative stress index levels and lower total antioxidant status level as compared with the group 2 (P=0.001, P<0.001, P<0.001, P=0.036, respectively). The serum cystatin C level was significantly correlated with the oxidative stress index (r=0.609, P<0.001). CONCLUSIONS: The present study demonstrated that both oxidative stress and cystatin C levels were increased in patients with PE, and the increased cystatin C levels seem to be a consequence of oxidative stress.

Association of parity with osteoprotegerin levels and atherosclerosis.

PURPOSE: Association of serum osteoprotegerin (OPG) levels and cardiovascular disorders has been shown previously. The aim of this observational study was to investigate the relationship between parity, OPG and carotid intima-media thickness (CIMT) in premenopausal women. METHODS: A total of 128 women (mean age ± SD, 37.8 ± 4.7 years) were divided into three group according to parity [1-3 as group 1 (n = 41), 4-6 as group 2 (n = 55) and ≥7 as group 3 (n = 32)]. Serum OPG was measured and CIMT was evaluated. RESULTS: Both serum OPG levels and CIMT tended to increase with advancing parity; OPG level was significantly higher in group 3 than in group 1 (p = 0.013) and CIMT was significantly higher in group 2 and group 3 than in group 1 (p < 0.001 for both). In correlation analyses, there were significant correlations between all three parameters. CONCLUSIONS: Our results revealed that there was an increased risk of cardiovascular disease in women with multiparity. Significant association of OPG with CIMT suggested that OPG might play a role in the pathogenesis of parity-induced atherosclerosis.

Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.

Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosis of macrosomia and tetralogy of Fallot. He also had macrocephaly; a high forehead; capillary hemangioma on the forehead, upper lip, and philtrum; generalized loose skin; postaxial polydactyly of both hands and feet, with neuroimaging findings of polymicrogyria and thrombosis in sagittal sinus and sinus rectus. His condition was diagnosed as macrocephaly-capillary malformation syndrome in the neonatal period and he died suddenly during sleep at 6 months of age. The clinical course in this syndrome is not as benign as was previously thought. Careful follow-up of these patients with particular emphasis on neuroradiologic and cardiologic evaluation might help decrease the risk of sudden death and to improve long-term outcome.

Increased prolidase activity and oxidative stress in PCOS.

AIM: Matrix metalloproteinases (MMPs) have been considered to have a role in various pathological processes, including inflammatory response, cardiovascular disease and recently also in ovarian dysfunction. Since prolidase could be accepted as a matrix metalloproteinase, on the biochemical level, we aimed to evaluate serum prolidase activity and oxidative-antioxidative status in patients with polycystic ovary syndrome (PCOS) and healthy individuals. MATERIALS AND METHODS: Thirty-three PCOS patients and 28 healthy nonhyperandrogenic women were studied. Levels of prolidase activity, total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), luteinizing hormone (LH), follicle-stimulating hormone (FSH), total testosterone (T) and prolactin (PRL) were calculated. RESULTS: Levels of prolidase activities, total oxidant status, oxidative stress index, LH, PRL, and T were significantly higher in PCOS group than in the control group. Total antioxidant status levels were lower in PCOS group than healthy group, but it was not statistically significant. There was no significant difference between PCOS and control groups in term of FSH. CONCLUSION: Women with PCOS have increased serum prolidase activity and oxidative stress. It might be hypothesized that elevated serum prolidase activity and oxidative stress may be associated with increased cardiovascular risk in PCOS and/or menstrual irregularities associated with this syndrome.