Prenatal Diagnosis of Organic Acidemias at a Tertiary Center.

The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors.

The influence of migration on women's satisfaction during pregnancy and birth: results of a comparative prospective study with the Migrant Friendly Maternity Care Questionnaire (MFMCQ).

INTRODUCTION: Approximately 21% of Germany's inhabitants have been born abroad or are of direct descent of immigrants. A positive birth experience has an effect on a woman's mental health and her future family planning choices. While international studies showed that immigrant women are less satisfied with their birth experience, no such study has been conducted in Germany until now. METHODS: At our center of tertiary care in Berlin, with approximately 50% immigrants among patients, pregnant women of at least 18 years of age were offered participation in this study. A modified version of the Migrant Friendly Maternity Care Questionnaire (MFMCQ) designed by Gagnon et al. in German, English, French, Spanish, Arabic and Turkish was used. We compared non-immigrant women to immigrant women and women with direct descent of immigrants. For certain analysis, the latter two groups were included together under the category "migration background". RESULTS: During the study period, 184 non-immigrant, 214 immigrant women and 62 direct descendants of immigrants were included. The most frequent countries of origin were Syria (19%), Turkey (17%), and Lebanon (9%). We found a slight difference between groups regarding age (non-immigrants: mean 33 years versus women with any migration background: mean 31) as well as parity with more non-immigrants delivering their first child. No difference in the satisfaction with care was observed between immigrant and any migration background groups (p ≥ 0.093 in the two-sided Fisher's exact test). At least 75.8% of all participating women reported complete satisfaction with care during labor, birth and after birth. Interestingly, the level of German language proficiency did not influence the immigrant patient's satisfaction with care. CONCLUSION: The study results show no difference regarding overall satisfaction with care during labor and birth despite a relevant language barrier. We are for the first time providing the MFMCQ in German and Turkish. Further future analyses on the impact of patient expectations on satisfaction with care will be conducted.

Assessment of Interleukin 2 Cytokine Expression Levels After Renal Transplantation.

AIM: End-stage renal disease is a disease in which the kidney is not able to perform its functions. Kidney transplantation is the most effective treatment and cost-effective modality of renal replacement therapy for patients with end-stage renal disease. However, the most important problem in end-stage renal disease patients is the unpredictability of immunologic response after transplants. In this study, it was aimed to investigate the possible association between the interleukin 2 (IL-2) expression level and an organ rejection or rejection episode. MATERIALS AND METHODS: Lymphocytes were isolated from peripheral blood obtained from 21 end-stage renal disease-diagnosed patients prior to transplant and at the sixth month after transplant. CD4+ T cells were separated from lymphocytes by the magnetic cell-sorting method. The purity of these cells were controlled by a flow cytometer. After total RNA isolation from CD4+ T cells, IL-2 was examined by the real-time polymerase chain reaction (RT-PCR) method. RESULTS: Among nonrejection patients (n = 18), the IL-2 expression level decreased in 12 patients in post-transplant time, and 3 of these were statistically significant (P < .05). The level was the same in 1 of 18 patients; it increased in 5 patients, and 1 of them was significant (P < .05). The IL-2 expression level also increased in 3 patients who had a rejection episode, and the increase was statistically significant in 2 samples (P < .05). CONCLUSION: When the patients were evaluated individually, it was observed that there might be a relationship between IL-2 expression levels in CD4+ T cells and rejection episodes. The clinical data of the patients, the immunosuppressive therapies, and post-transplant evaluation of cytokines should be considered together.

Comparison of Anti-HLA Antibody Production According to Gestational Periods in Pregnant Women.

BACKGROUND: To evaluate paternal anti-HLA antibody profiles, sera samples were collected from pregnant women in different trimesters and the panel-reactive antibody (PRA) specificities were identified. METHODS: From 2013 to 2015, serum samples were obtained from 41 pregnant women who had registered at the Izmir Tepecik Education and Research Hospital Gynecology Clinic. Anti-HLA antibodies were screened by using the panel reactive antibody screening and identification tests. Sera samples were obtained at the first, second, and third trimesters. The primary outcome was to determine the anti-HLA antibody production term during pregnancy; the secondary outcome was identification of anti-HLA antibodies. RESULTS: None of the women had a sensitization history except during pregnancy. We observed that 54% of the women produced paternal antibodies, either class I or II. Class I PRA positivity of the women who had a first or second pregnancy was the same in all 3 trimesters, whereas class II positivity was increased in the third trimester. Class II and both class I and II positivity increased in the third trimester; class I positivity was decreased in the third trimester. PRA positivity could be affected by the history of pregnancy and could be raised, but no impact was observed from the history of abortion and miscarriage (odds ratios, 1.9, 0.4, and 0.5 [95% confidence intervals, 0.5-7.8, 0.1-2.0, and 0.3-0.7], respectively; P > .05). The most frequently detected antibodies were A2, B7, DR7, DR4, DR11, DR13, DQ2, and DQ8. CONCLUSIONS: Anti-HLA antibodies against paternal HLA antigens were detected more in multiparous women than in primiparous women. Anti-HLA antibody detection ratios did not change until the third trimester and were followed by a specific increase in class II anti-HLA antibody production.

The Effect of Thyroid-Stimulating Hormone on Tumor Size in Differentiated Thyroid Carcinoma.

We evaluated the correlation between serum thyroid-stimulating hormone (TSH) levels and tumor size and other invasiveness parameters of tumor in patients with differentiated thyroid carcinoma (DTC). Several clinical studies have reported that TSH may also have a role as a regulator of the development and function of the thyroid gland. It is currently not clear whether TSH is involved in the existence of thyroid cancer or progression of thyroid cancer or both. Patients with DTC who underwent thyroid surgery between 2003 and 2008 were included this study. Preoperative serum T3, T4, and TSH levels were compared with the size and invasiveness of cancer, retrospectively. DTC was observed in 110 patients over the 5-year period. Seventy-seven (70 %) of them were euthyroid and classified as the "normal-TSH group" (NTG), and 33 (30 %) have an overt or subclinical hyperthyroidism, classified as the "low-TSH group" (LTG). The mean tumor diameter in the LTG was found to be 8.91 ± 8.03 mm; however, it was found to be 18.19 ± 16.24 mm in the NTG. There were significantly differences among the groups related to the diameter of tumor (p = 0.001). Microcarcinoma was determined in 36 patients (46.8 %) in the NTG and 23 patients (69.7 %) in the LTG (p = 0.027). Although there were no significant differences, tumor capsule invasion (33.8 vs. 18.2 %, p = 0.099) and lymphovascular invasion (16.9 vs. 6.1 %, p = 0.130) rates were higher in the NTG. These findings suggest that TSH has effects on growing and proliferation of not only normal thyroid cells but also cancer cells in DTC. This study revealed that serum TSH level can be explored as an important factor that affects the size and invasiveness of tumor in DTC.

Epstein-barr virus encephalitis in infancy.

Epstein-Barr virus (EBV) infection causes a wide spectrum of illness in humans including subclinical infection, infectious mononucleosis, and is associated with some malignancies. This report presents the clinical findings of an unusual case of EBV encephalitis in a 10-month old infant who presented with a febrile infection and seizures. The clinical manifestations, serologic study and a dynamic change of EBV DNA in cerebrospinal fluid with spontaneous recovery confirmed the diagnosis of EBV infection of the nervous system.

Long-term outcomes after transcanalicular laser dacryocystorhinostomy.

The main objective of the present study was to prospectively evaluate long-term surgical success and safety in patients with nasolacrimal duct obstruction treated with a multidiode transcanalicular laser and bicanalicular silicone intubation stenting. 42 patients treated with transcanalicular laser dacryocystorhinostomy for nasolacrimal duct obstruction were prospectively enrolled. In all cases, silicone stents were inserted. Subjective outcome measure was resolution or improvement of epiphora. Objective outcome measures were patency of the lacrimal system tested with fluorescein and persistence of the nasolacrimal window visualized by nasal endoscopy. The lacrimal system was functional in 95.2% of the patients. The endocanalicular laser DCR failed in two of the 42 (4.8%) cases. External dacryocystorhinostomy was performed successfully on the failed cases. Lacrimal pump syndrome was not seen in any patient. In conclusion, endocanalicular laser dacryocystorhinostomy using a multidiode laser appears to be an effective technique in patients unresponsive to medical therapy.

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Porencephaly is an extensively encountered condition in pediatric neurology practice and leads to serious morbidity with its complications. Important etiological factors are trauma, hemorrhage, infection and thrombophilic factors that may cause destruction in the developing brain. Col4A1 mutations were also shown in familial porencephaly cases. We describe two siblings with porencephaly, hemiparesis, epilepsy, atrophic kidney in one of the siblings and asymptomatic mothers with an arachnoid cyst. We performed Col4A1 gene mutation screening and detected a novel mutation in mother and both of the children. This family has some features previously undescribed in patients with mutations of Col4A1 gene like atrophic kidney in one sibling and arachnoid cyst in the mother. We discuss here the possible relationship between these abnormalities and the mutation.

Evaluation of cytologic screening results of the cervix.

The aim of this study was to evaluate retrospectively cytologic screening for cancers and precancerous lesions of the cervix and to research whether biopsy is overused among women with a cytologic diagnosis of atypical squamous cells of undetermined significance (ASCUS). We examined 28 469 smears obtained over 5 years. The patients were referred when the result of the smear was abnormal for a colposcopic biopsy, endocervical curettage, or a repeat Papanicolaou smear. The results of the screening of 28 469 smears are as follows: 699 (2.45%) ASCUS, 67 (0.23%) low-grade squamous intraepithelial lesions (LGSIL), 43 (0.15%) high-grade squamous intraepithelial lesions (HGSIL), 1 epidermoid carcinoma, 31 (0.10%) atypical glandular cells, and 1 adenocarcinoma. Histologic examination of the cervix was done in 119 patients (17.0%) of ASCUS, 13 patients (10.9%) of LGSIL, and 15 patients (12.6%) of HGSIL and cervical carcinoma. In the 119 women with histological examination, histologic examination was generally performed in patients with ASCUS neoplastic Papanicolaou smear, and histologic diagnosis of low-grade, high-grade, or invasive lesion of the cervix was made in 23.5% of women with ASCUS; in these patients, 46.4% were cytologic LGSIL and 53.5 % were cytologic HGSIL and cervical carcinoma. In the aspect of these findings, we concluded that for patients with a cytologic diagnosis of ASCUS, more aggressive interventions should be performed.

Analysis of 59 cases of emergent peripartum hysterectomies during a 13-year period.

OBJECTIVE: The objective was to investigate the incidence, indications, and risk factors of peripartum emergent hysterectomy. METHOD: Fifty-nine cases of emergent peripartum hysterectomy performed at Zeynep Kamil Women and Children's Education and Research Hospital during a 13-year period between January 1990 and January 2003 were evaluated retrospectively. Emergent peripartum hysterectomy was defined as that performed for haemorrhage unresponsive to other therapeutic interventions within the first 24 h of delivery. RESULT: Emergent peripartum hysterectomy was performed in 59 cases of 234,958 women (25.1/100,000). Total and subtotal hysterectomy was performed in 25 and 34 cases respectively. The rates of emergent peripartum hysterectomy after vaginal and caesarean deliveries were 8.7/100,000 and 104.5/100,000 respectively. Uterine atony was the most frequent indication (62.7%). The rates of emergent peripartum hysterectomy due to uterine atony in primiparous and multiparous women were 61.1 and 65.2% respectively. The rate of maternal mortality was 8% (5 cases). CONCLUSION: Uterine atony was the most common indication for emergent peripartum hysterectomy.

High local endometrial effect of vaginal progesterone gel.

Our objective was to investigate the first-pass effect to the uterus of progesterone gel administered vaginally. This was a prospective, randomized study of 32 postmenopausal women, attending our menopause clinic. All women used transdermal estradiol (50 microg/day, a patch each week) for 2 weeks. They used either vaginal progesterone gel or intramuscular progesterone in oil 50 mg after 24 h to oppose the transdermal estradiol. Serum progesterone levels and endometrial tissue progesterone levels were determined. Serum progesterone levels were higher in women who used the intramuscular rather than the vaginal route. Although serum progesterone levels in the vaginal group were lower than in the intramuscular group, the endometrial tissue concentration of progesterone was higher. It is concluded that progesterone gel, used vaginally, has a high local effect on the endometrium, without any systemic side-effects due to high plasma progesterone levels.

Effects of semen characteristics on IUI combined with mild ovarian stimulation.

To determine the influence of sperm parameters inseminated on the outcome of intrauterine insemination (IUI) in patients undergoing ovarian stimulation with clomiphen citrat (CC) or human menopausal gonadotropin (HMG) therapy, a retrospective review was performed for 2 years on data from the IUI program. 190 couples underwent a total of 268 IUI cycles in which CC or HMG was used for ovulation induction. The initial sperm concentration (mil/ml), motility (percent), preprocessing total motile sperm (TMS) count (million), fast motile sperm (percent) and postprocessing sperm concentration (mil/ml), motility (percent), TMS count, fast motile sperm (percent), sperm morphology, hypoosmotic swelling (HOS) scores, semen leuocytes, and bacteria were analyzed. 268 inseminations were followed by a pregnancy rate of 12% and couple pregnancy rate of 17%. On multivariable logistic regression analysis, total motile sperm (TMS) count, percent motility, and percent of fast motile sperm were independent prognostic factors of fertility. The impact of the preprocessing and postprocessing sperm parameters on pregnancy outcome after IUI was evaluated. There was a trend toward an increasing percent of conception with increasing TMS count, motility, and percent of fast motile sperm. The TMS count, motility and percent of fast motile sperm independently predict success with IUI. Patients with original sperm motility > or = 30% had a higher cumulative pregnancy rate (74%) than patient with motility < 30% (p < 0.005). Pregnancy rate increased 4 times with motility of > or = 30%.

Relationship between semen quality and seminal plasma total carnitine in infertile men.

This study was designed to determine any correlation between infertility and semen quality with concentrations of total carnitine in human seminal plasma. Seminal plasma total carnitine concentrations were determined in 79 men. The seminal plasma of 65 infertile men and 14 men as a control group with proved fertility were investigated. The concentrations of total carnitine were reduced significantly in the infertile group compared to the control group (31.52 +/- 20.77 vs. 45.52 +/- 10.73 mg/l, P<0.05). The 65 infertile men were divided into five groups according to their sperm analysis: normospermia (n=42), oligospermia (n=23), asthenospermia (n=40), teratospermia (n=44) and oligoasthenospermia (n=10). Total seminal plasma carnitine concentration differed significantly between controls and the patient groups (P<0.05). There was a statistically significant positive correlation between seminal plasma total carnitine concentration with total sperm count and the percentage of normal forms (P<0.05 and P<0.01, respectively). Total carnitine concentration was found to be low in the asthenospermia group when compared with the group of patients, whose total motile sperm percentage was 51 (P<0.05). These findings suggest that the determination of seminal carnitine levels may be a useful test in evaluation of male infertility.

Basal hormone levels in women with recurrent pregnancy loss.

The potential role of endocrine abnormalities during the follicular phase in women with unexplained recurrent pregnancy loss was investigated in a retrospective study. Eighty women with recurrent pregnancy loss underwent routine work-up to exclude known associations with the condition. Following investigation, 58 women failed to reveal an identifiable cause, and were therefore classified as having unexplained recurrent pregnancy loss. The control group consisted of women with known causes of abortions, such as uterine septum and parental chromosomal abnormalities. Mean age, gravidity, parity, presence of infertility, previous number of miscarriages and duration of marriage were similar in both groups. Day-3 serum levels of follicle stimulating hormone (FSH), estradiol, luteinizing hormone (LH) prolactin, total testosterone, dehydroepiandrosterone sulfate (DHEAS) and thyroid stimulating hormone (TSH) were compared in the two groups. FSH, estradiol, LH, prolactin and DHEAS concentrations were significantly higher in the unexplained recurrent pregnancy loss group than in the explained recurrent pregnancy loss group, although serum concentrations of all hormones were within the normal range (p < 0.01). TSH and total testosterone levels were similar in the two groups (p > 0.05). There were no differences in the frequency of abnormal levels of hormones between the two groups (p > 0.05). We conclude that endocrine abnormalities in the follicular phase are not associated with recurrent pregnancy loss.

Bleeding patterns in women using intramuscular progesterone for luteal support in in-vitro fertilisation cycles.

This paper aims to evaluate the effects of i.m. progesterone on bleeding patterns after in-vitro fertilisation embryo transfer (IVF-ET). It is a retrospective cohort study conducted in the reproductive endocrinology and IVF department of a teaching hospital. One hundred consecutive women were studied who had undergone IVF-ET using 'long protocol' stimulation with leuprolide acetate-recombinant follicle stimulating hormone (rFSH) and who did not become pregnant. Intramuscular (i.m.) progesterone (50mg once daily) was started the day before oocyte retrieval and continued for a minimum of 12-14 days following embryo transfer. The main outcome measures were time interval between oocyte retrieval and onset of bleeding, luteal phase serum progesterone and oestradiol (E2) levels, and midluteal endometrial thickness. Of the 100 patients whose charts were reviewed, 67 bled (group A) before progesterone treatment was discontinued (17 days after oocyte retrieval) and 33 (group B) bled after progesterone treatment was discontinued (> 17 days). Mean onset of bleeding was 16.2+/-2.6 days after oocyte retrieval. Serum progesterone concentrations were similar in the two groups on the day of hCG administration, whereas progesterone concentrations (in-group B) were higher on days 7 and 15 after oocyte retrieval. No statistically significant differences were found between two groups with respect to mean midluteal endometrial thickness and mean serum E2 concentrations on days 0, 7 and 15. The results suggest that i.m progesterone administration for luteal support in assisted reproduction cycles elongates luteal phase in some patients due to supraphysiological serum progesterone levels. However, most patients start to bleed in the absence of pregnancy despite continued progesterone treatment.

Doppler evaluation of the uterine, intraovarian, stromal and spiral arteries on the day of human chorionic gonadotrophin administration in controlled ovarian hyperstimulation.

The aim of this prospective study was to investigate the ability of transvaginal power Doppler ultrasonography to assess the relationship between the pulsatility indices (PI) of uterine, spiral and ovarian arteries and endometrial thickness on the day of, but just before, human chorionic gonadotrophin administration and the relationship to pregnancy outcome. Fifty-seven patients were recruited to the study. The mean PI values of the uterine arteries demonstrate significant differences between the women who conceived and those who did not. The mean PI values of the intraovarian flow also demonstrated significant differences between the left and right PI values and between the PI of the women who conceived and those who did not. Mean PI values of the spiral arteries and endometrial thickness did not demonstrate any significant difference between the women who conceived and those who did not. The parameters used currently in colour Doppler assessment of ovarian stromal, uterine and spiral artery perfusion are clinically helpful in discriminating prospectively which patients will and will not become pregnant in controlled ovarian hyperstimulation, insemination programme.

Serum levels of inhibin B in men and their relationship with gonadal hormones, testicular volume, testicular biopsy results and sperm parameters.

Currently, serum inhibin B levels, indicating testicular function due directly to its testicular origin, has been used increasingly in assisted reproductive units. Our aim in this prospective study was to evaluate the biological significance of inhibin B in gonadal dysfunctional males and the usefulness of inhibin B for the detection of male reproductive dysfunction. We included 52 oligoazoospermic and 20 normospermic men in this study. In our study serum inhibin B levels had statistically significant negative correlation with serum FSH and LH levels (P < 0.001, r: 0.781) and statistically moderate positive correlation with oestradiol levels (P < 0.005, r: 0.292). Inhibin B levels had significantly positive correlation with sperm count (P < 1.005, r: 0.851) and with testicular volume (P < 0.001, r: 0.466). Consequently, serum inhibin B level determination is a useful and non-invasive method for the evaluation of male gonadal dysfunction, taking into account its correlation with history, clinical examination, hormonal parameters, testicular volume, spermiogram and testicular biopsy.