Management of a rare case of arrhythmogenic right ventricular dysplasia in pregnancy: a case report

<p>Abstract</p> <p>Introduction</p> <p>Arrhythmogenic right ventricular dysplasia is a heritable disease of the heart muscle characterized by fibrofatty degeneration of cardiomyocytes. Patients present with ventricular arrhythmias or congestive heart failure, and sometimes sudden cardiac death occurs. Prenatal diagnosis has become possible with the detection of mutations, but, to the best of our knowledge, no case of prenatal diagnosis has been reported previously. There is little information about the management of arrhythmogenic right ventricular dysplasia in pregnancy, and the preferred mode of delivery is not certain; therefore, we present the case of a patient with arrhythmogenic right ventricular dysplasia and discuss the prenatal diagnosis, patient management and prognosis in pregnancy.</p> <p>Case presentation</p> <p>A 26-year-old Caucasian woman who presented to our hospital with heart palpitations was diagnosed with arrhythmogenic right ventricular dysplasia, and, after three years of follow up with anti-arrhythmic drugs, she wanted to conceive. During pregnancy, she ceased taking her medication. She tolerated pregnancy very well but her cardiac symptoms recurred after her 30th week of pregnancy. She delivered a baby via cesarean section under general anesthesia in her 38th week of pregnancy. She was discharged without any medications and continued lactation for six months.</p> <p>Conclusion</p> <p>Patients with mild to moderate arrhythmogenic right ventricular dysplasia tolerate pregnancy and breastfeeding very well, but patients with end-stage arrhythmogenic right ventricular dysplasia should be discouraged from conception.</p

Results of midtrimester emergency cercllage

İstanbul Bilim Üniversitesi, Tıp Fakültesi.OBJECTIVE: To evaluate the outcomes of midtrimester emergency cerclage and to find out,the contributing factors. STUDY DESIGN: Twenty-five patients presenting with cervical dilation and effacement with the membranes at the level of the external os or prolapsed into the vagina were included in the study. At the time of the cervical cerclage placement, gestational age ranged from 14-26 weeks. A good outcome was defined as the take-home baby rate, but also the interval between the time of the cervical cerclage placement and delivery and the gestational age at delivery were discussed. RESULTS: The mean gestational age at the time of the cervical cerclage placement was 21.2 +/- 2.73 weeks, the mean gestational age at delivery was 29.4 +/- 5.37 weeks, and the mean birth weight was 1,511 g. Eighteen patients had McDonald type cerclage, and 7 patients had both McDonald and Saling type cerclages. The overall take-home baby rate was 64%. Patients presenting with membranes at the level of external os had a take-home baby rate of 68.8%, whereas patients presenting with membranes prolapsed into the vagina had a take-home baby rate of 31.3%. CONCLUSION: Cervical dilation at midtrimester has a poor outcome which can be improved with emergency cerclage. Patients presenting with membranes prolapsed into the vagina have a decreased success rate. Total closure of the cervix may improve results. (J Reprod Med 2013;58:143-148

Relationship of endometrial thickness with metabolic parameters and sex-steroids in postmenopausal women

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Amaç: Bu çalışma postmenopozal kadınlarda seks steroidleri ve metabolik parametreler ile endometrial kalınlık arasındaki bağlantıyı araştırmak amacıyla planlandı Gereç ve Yöntem: 2010-2012 yılları arasında prospektif bir çalışmaya dahil olan hastaların verileri değerlendirildi. Postmenopozal hastaların endometrial kalınlık ölçümleri, hormonal ve metabolik parametreleri ile karşılaştırıldı. Bulgular: Çalışmaya 54 hasta dahil edildi. Endometrial kalınlığı 5mm'nin altında olan olgularda ortalama FSH değeri 83.8±27.7 mIU/ml, endometrial kalınlığı 5mm ve üzerinde olan olgularda ise ortalama FSH değeri 52.4±16.7mIU/ml olarak bulunmuştur (p=0.043). Endometrial kalınlık ile seks steroidleri, vücut kitle indeksi (VKİ) ve metabolik parametreler arasında bir ilişki saptanmamıştır.Purpose: The aim of this study was to understand the relationship between endometrial thickness and metabolic parameters and sex-steroids in postmenopausal women. Methods: We used data of patients attending a prospective study between 2010 and 2012. We compared endometrial thickness of postmenopausal women with hormonal and metabolic parameters. Results:We included 54 patients in this study. Mean FSH level of patients with an endometrial thickness <5mm was 83.8±27.7 mIU/ml, mean FSH level of patients with an endometrial thickness ≥ 5mm was 52.4±16.7mIU/ml (p=0.043). We did not detect any other relationship between endometrial thickness and sex-steroids, body mass index (BMI) and metabolic parameters

Polikistik over sendromlu hastalarda koroner kalp hastalıklarının belirteci olarak c-reaktif protein ve lipoprotein-a bakılması

İstanbul Bilim Üniversitesi, Tıp Fakültesi.OBJECTIVE: The aim of this study was to investigate the risk factors of coronary heart disease, CRP and Lipoprotein-a in polycystic ovary syndrome patients. MATERIAL AND METHODS: Prospectively collected data of polycystic ovary syndrome patients (n=62) and control group (n=40) were compared. RESULTS: PCOS patients had higher HOMA-IR, CRP, DHEAS, free testosterone, FAI, LH and prolactin levels when compared to the control group. Lipoprotein-a levels did not differ between the groups. The obese PCOS group had statistically significantly higher fasting blood glucose, total cholesterol, triglyceride, free testosterone, insulin, CRP and HOMA-IR and statistically significantly lower HDL and SHBG when compared to normal weight PCOS persons. Fasting blood glucose, total cholesterol, LDL, SHBG, CRP, Lipoprotein-a, FSH, LH, TSH, DHEAS and prolactin levels did not differ between the normal weight and obese control groups. CONCLUSION: CRP levels increase in polycystic ovary syndrome patients and can be used as a marker of coronary heart disease. Future studies can be directed at treatments to decrease CRP levels, including antiinflammatory treatments.Amaç: Bu çalışmanın amacı polikistik over sendromlu hastalarda koroner kalp hastalıkları risk faktörlerini, CRP ve Lipoprotein-a araştırmaktı. Gereç ve Yöntemler: Prospektif olarak polikistik over sendromlu (n=62) ve kontrol grubunun (n=40) kan örnekleri çalışıldı. Bulgular: Polikistik over sendromlu hastalarda HOMA-IR, CRP, DHEAS, serbest testosteron, FAI, LH and prolaktin seviyeleri yüksek, FSH ve SHBG seviyeleri ise düşük bulundu. Lipoprotein-a gruplarda farklı değildi. Obez polikistik over sendromlu hastalarda açlık kan şekeri, total kolesterol, trigliserit, serbest testosteron, insulin, CRP ve HOMAIR daha yüksek, HDL ve SHBG daha düşük bulundu. Açlık kan şekeri, total kolesterol, LDL, CRP, SHBG, Lipoprotein-a, FSH, LH, TSH, DHEAS ve prolaktin seviyeleri obez ve normal kilolu kontrol gruplarında benzerd

Achondrogenesis type Ia (Houston-Harris): 2D/3D/4D ultrasonographic prenatal diagnosis: Case report

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Tip IA akondrogenezi, şiddetli mikromeli, vertebra korpuslarında ossifikasyon olmaması ve multipl kırıklar olan kaburgalarla karakterize ölümcül bir kondrodistrofidir. Yirminci gebelik haftasında kliniğimize konsülte edilen hastanın 2 boyutlu ultrasonografik incelemesi bu nadir anomaliyi ortaya koymuştur. Üç ve 4 boyutlu ultrasonografi görüntülemeleri olguyu spesifik tanısına yaklaştırdı. Hastanın aydınlatılmış onamı ile yapılan gebelik terminasyon sonucunda tanı postnatal olarak doğrulandı. Son yıllarda sonografi alanındaki gelişmeler doğrultusunda iskelet displazilerinin tanınması erken dönemlerde mümkün olmaktadır. Erken ve spesifik prenatal tanı, ileri haftalara taşınması muhtemel olumsuzlukları önlerken, genetik danışmanlığa yön vermesi nedeni ile de önemlidir. Görüntülemedeki teknik üstünlüklerinin yanı sıra 3 boyutlu ultrasonografinin anormal bulguların doktor ve aile tarafından çok daha çabuk ve açık olarak anlaşılmasını sağladığını düşünüyoruz.Type IA achondrogenesis is a lethal chondrodystrophy characterized by severe micromelia, absent mineralization of vertebral bodies, and multiple rib fractures. 2-dimensional ultrasound evaluation of the patient who was consulted with our clinic at 20 weeks of gestation revealed this extremely rare fetal anomaly. 3-and 4-dimensional ultrasound imaging approximated the case to its specific diagnosis. The final diagnosis was postnatally confirmed at pregnancy termination that was preceded with patient's informed consent. Early identification of skeletal dysplasias becomes easier according to the developments in sonography. Early and specific prenatal diagnosis avoids the possible problems that could come up against at further weeks of gestation, and guides the genetic counseling, as well. We think, 3-dimensional ultrasound, besides its technical superiority at imaging, makes it quicker and more definite to understand the abnormal findings both by the doctor and the family

Dakriyosistoselin prenatal erken tanısı, vaka sunumu ve literatür taraması

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Dacryocystocele (mucocele, amniocele) is a relatively rare variant of nasolacrimal duct obstruction which refers to the cystic dilatation of lacrimal pathway above and below the lacrimal sac. It is a benign pathology and can be treated successfully after birth, but its prenatal detection is important, because it may be seen in numerous syndromes and may serve as their marker. Bilateral cysts have the possibility for intranasal extension and an obstruction to the nasal passages may result in neonatal respiratory distress requiring surgical intervention Unilateral cases are important for the differential diagnosis with serious facial abnormalities. We present a case of early prenatal detection of a 28 year-old G: 1 P: 0 pregnant woman with bilateral dacryocystocele. She presented a live, normally developed singleton fetus on sonographic examination at 12, 16 and 22 weeks. At 25th weeks, we diagnosed a hypoechogenic mass, that was situated inferomedially to the eyes in the fetal face with 2 and 3-D ultrasound. A 3850-g live female infant was delivered by Cesarean section due to breech presentation at 39 weeks following preterm rupture of membranes. We report the case with intranasal components studied during fetal life by 2 and 3-D ultrasound and magnetic resonance (MR) imaging

Management and Prognosis of Cesarean Scar Pregnancy; Case RSezaryen Skar Gebeliğinde Tanı, Yönetim ve Prognoz; Vaka Sunumu

Giriş: Artan sezaryen oranlarıyla birlikte sezar- yene bağlı gelişen komplikasyonlarda da artış ol- maktadır. Sezaryen komplikasyonlarından biri olan sezaryen skar gebeliği de erken tanı konmadığında ölümle sonuçlanabilmektedir. Olgu: 34 yaşında sezaryen skar gebeliği tanısı ko- yulan bir hastada, gestasyonel kesenin eksize edile- rek tedavi edildiği bir olguyu sunmak istiyoruz. Sonuç: Sezaryen skar gebeliği tanı konulmadığında yüksek mortalite oranına sahiptir. Erken tanı ile fer- tilite koruyucu girişimler yapılarak başarıyla tedavi edilebilmektedir. Anahtar Kelimeler: Sezaryen, skar, ektopik gebelikIntroduction: Increasing rate of ceseraen delivery causes increasing rate in the complications of this procedure. One of the complications of cesarean se- ction is cesarean scar pregnancy (CSP), which is a life threatining condition if not diagnosed early. Case: 34 year old multiparous women with CSP with favorable outcome by surgical excision of the gestational sac was presented. Conclusion: CSP may be a life threatining conditi- on and management by fertility preserving procedu- res is feasible with the early diagnosis

İlk üç ay serum PAPP-A değerleri düşük olan hastalarda ikinci üç ay tahmini fetal ağırlığın düşük doğum ağırlıklı bebekleri tahmin etmede kullanılması

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Objective: The aim of this study was to examine fetal growth in the second trimester and to detect its predictive value for delivering small-for-gestational age neonates in patients with low first trimester pregnancy associated plasma protein-A (PAPP-A) levels. Material and Methods: We searched the patient charts of our hospital for first trimester Down syndrome screening tests retrospectively (n=923), we identified patients with PAPP-A levels < 5th percentile (n=60) and then we searched their ultrasound records for second trimester estimated fetal weight (EFW) results (Hadlock) at 18-23 weeks. Results: The sensitivity of a low second trimester EFW for birth weights <5th percentile was 14.3%, specificity 90.7%, positive predictive value 33.3% and negative predictive value 76.4%. Conclusion: Combination of low second trimester EFW with low PAPP-A levels increase sensitivity and PPV of PAPP-A in detecting small-for-gestational age neonates.Amaç: Bu çalışmanın amacı ilk üçay gebelik ilişkili plazma proteini A (PAPP-A) seviyeleri düşük bulunan hastalarda, ikinci üçay tahmini fetal ağırlık ölçümlerinin düşük doğum ağırlıklı fetüsleri tahmin etmede kullanılabilirliğini tespit etmektir. Gereç ve Yöntemler: Retrospektif olarak düzenlenen çalışmada hastanemizin gebe kayıtları incelendi ve ilk üçay Down sendromu tarama testlerinin sonuçları bulunarak (n=923), PAPP-A seviyeleri 5. persentilin altında kalan hastalar (n=60) tespit edildi. Bu hastaların ultrason kayıtlarından 18-23. haftalar arasında yapılmış ikinci üçay tahmini fetal ağırlık persentilleri (Hadlock) hesaplandı. Bulgular: İkinci üçay ultrasonunda düşük tahmini fetal ağırlık saptanmasının 5. persentilin altındaki yenidoğan doğum ağırlıklarını tespit etme duyarlılığı %14,3, özgüllüğü %90,7, pozitif kestirim değeri %33,3 ve negatif kestirim değeri %76,4 olarak bulundu. Sonuç: İkinci üçay tahmini fetal ağırlık ölçümü ile PAPP-A'nın birlikte kullanımı, PAPP-A'nın düşük doğum ağırlıklı yenidoğanları tespit edebilme duyarlılığını ve pozitif prediktif değerini arttırmaktadır

Ardışık üçüncü trimester ultrason incelemeleri ile fetal ağırlığın tahmin edilmesi

İstanbul Bilim Üniversitesi, Tıp Fakültesi.OBJECTIVES: To construct a clinical management matrix using serial fetal abdominal circumference measurements (ACMs) that will predict normal birth weight in pregnancies complicated by gestational diabetes (GDM) and reduce unnecessary ultrasound examination in women with GDM. STUDY DESIGN: Retrospective cohort study of 144 women with GDM in a specialist obstetric-diabetes clinic. Women with GDM who delivered singleton infants were identified from a clinical register. Regression analysis was used to identify associations between serial ACMs, maternal parameters and normal birth weight (birth weight between the 10th and 90th percentiles). Predictive clinical models were designed with the aim of identifying normal birth weight infants with the lowest number of fetal ultrasound scans. RESULTS: Compared to mothers of large-for-gestational-age (LGA) infants, mothers of normal weight infants had lower fasting glucose measurements at diagnosis (5.9 mmol/l±1.0 vs. 6.6 mmol/l±0.7, p<0.05), lower maternal weight at delivery (90 kg±17 vs. 96 kg±17, p<0.05), and a lower rate of prior LGA infants (31% vs. 60%, p<0.05). Maternal weight and a history of prior LGA delivery were identified as useful predictors of fetalbirth weight in predictive models. Serial ACMs below the 50th, 75th and 90th percentiles could predict normal birth weight with 100%, 97% and 96% positive predictive value respectively when used in these risk factor based models. Two measurements sufficed in low-risk pregnancies. CONCLUSION: Serial ACMs can predict normal birth weight in GDM

The relationship between the risk of the gestational diabetes mellitus with respect to maternal age and initial body mass index

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Amaç: Anne yaşı ve vücut kitle indeksine (VKİ) göre Gestasyonel Diabetes Mellitus (GDM) riskini belirlemek Yöntemler: 2007-2011 yılları arasında hastanemizde takip edilmiş gebelerin kartları retrospektif olarak taranıp, 50 gram ve 100 gram tarama testlerinin sonuçları, bebeklerin doğum kiloları ve demografik verileri kaydedildi. Bulgular: 544 hasta çalışmaya dâhil edildi. Hastaların ortalama yaşı 30,2±4,2 yıl, ortalama VKİ değeri 23,3±4,1 kg/m2 (15,6-66), ortalama doğum haftası 38,9±1,2 hafta (34,9-42), ortalama doğum ağırlığı 3409±415 gram olarak bulundu. 40 yaş üzeri olgularda GDM için odds oranı 7.84, VKİ≥25 olanlar için odds oranı 1,74 olarak hesaplandı.Objective: To establish the risk of the gestational diabetes mellitus (GDM) with respect to maternal age and body mass index (BMI). Methods: The data of the patients, admitted to our clinic for pregnancy follow up between 2007 and 2011were collected retrospectively. 50 gram and 100 gram screening test results, birth weight of the newborns and demographic features of the patients were recorded. Results: 544 patients were included. Mean age of the patients was 30.2±4.2 years, mean BMI value was 23.3±4.1 kg/m2 (15.6-66), mean gestational age at delivery was 38.9±1.2 weeks (34.9-42), and mean birth weight was 3409±415 grams. The odds ratio for GDM at the patients above 40 years old was 7.84 and the odds ratio for patients with a body mass index ≥25 was 1.74