Pentalogy of Cantrell with Unilateral Kidney Evisceration: A Case Report and Review of Literature.

Pentalogy of Cantrell (PC) is a congenital malformation syndrome characterized by midline thoracoabdominal wall defect resulting from defective development in the septum transversum. Major hallmarks of this rare anomaly are omphalocele and ectopic heart. In most cases, the diagnosis is made by two-dimensional ultrasound in second trimester. The prognosis of PC relies on the presence and severity of cardiac anomalies but in most cases outcome is fatal. To the best of our knowledge, the presence of kidneys into the omphalocele in Cantrells' pentalogy has not been reported yet. In this article, we report a case of PC associated with unilateral kidney evisceration.

Low-dose Computed Tomography in a Pregnant Woman with a Ruptured Pseudoaneurysm of the Abdominal Aorta.

Imaging the pregnant patient presents a unique challenge to radiologist due to the risk of radiation to the conceptus (embryo/fetus). A rare case of a successfully recognized and treated pseudoaneurysm (PA) of the abdominal aorta is to be presented. The pseudoaneurysm occurred in the third trimester and had a favorable outcome for the mother and the baby. Emergent abdominal ultrasound (US) is the first modality in diagnostic algorithm for the rupture of aortic aneurysm in a pregnant woman. It provides the most rapid diagnostic information, although intestinal gas and abdominal tenderness may limit its accuracy. To confirm the findings, magnetic resonance angiography (MRA) or CT angiography (CTA) can be used. In our case, the diagnosis was established using a color Doppler ultrasonography of the abdomen and was later confirmed by a low dose CT scan of the abdominal aorta. MRA in such cases have some disadvantages. At many health centers, the monitoring of patients with acute ruptures is more difficult in the MR suite than at the CT scanner. MRA angiographic images are also subject to degradation by multiple artifacts and the visualization of the distal vasculature is suboptimal and inferior to the one done by CTA. Due to fetal movements, a small quantity of fresh blood can be overlooked by MR. MRA is often not available on a 24-hours basis, and the time required for making a diagnosis can preclude the use of MRA in an unstable patient. For this reason, we used a low dose CTA protocol to confirm the diagnosis. Low dose scanning protocols in CT can obtain sufficient diagnostic information while reducing the risk of radiation. A particular focus is put on the outline of new concepts for dose management and optimization. We used new approaches based on tube current modulation. The birth was induced by an urgent Caesarean section followed by a resection of a pseudoaneurysm and a reconstruction of the aorta with an end-to-end vascular prosthesis.

Literature review and case report: Rare case of successful prenatal detection of Vein of Galen Malformation (VGAM).

Vein of Galen aneurysmal malformation (VGAM) is a rare vascular anomaly originating during embryonic development, specifically between the 6th and 11th weeks of gestation. This malformation results from abnormal arteriovenous connections between primitive choroidal arteries and the median prosencephalic vein (MPV) of Markowski. Typically, the MPV regresses by the 11th week, but in VGAM, this regression is hindered, leading to persistent abnormal flow and the formation of arteriovenous shunts. We present a case of successful prenatal detection, as well as a comprehensive literature review that summarizes current knowledge, emphasizes the importance of prenatal detection, detailed imaging techniques, understanding clinical presentations, and outlines treatment options. Prenatal detection, crucial for early intervention, has become feasible through ultrasonography and MRI. Fetal MRI has emerged as the gold standard, offering detailed insights into arterial feeders, nidus presence, fistula position, venous drainage, and potential complications. The clinical presentation of VGAM varies with age, and neonates diagnosed in utero may exhibit signs of high-output cardiac failure. Early detection is critical for timely intervention, as untreated VGAMs often result in high mortality rates. Prognosis depends on the severity of heart failure, the number of arteriovenous shunts, and the presence of accompanying fetal abnormalities. Various imaging modalities, including CT angiography and digital subtraction angiography (DSA), aid in the assessment and treatment of VGAM. DSA remains the gold standard for evaluating angioarchitecture and guiding endovascular interventions. The optimal treatment for VGAM is transarterial embolization, offering significant improvements in prognosis. Surgical interventions are limited due to high morbidity and mortality. Management decisions should consider the balance between minimizing neurological damage and achieving maximum embolization effectiveness.

Fragility spinal fractures among cirrhotic liver transplant candidates in Croatia.

INTRODUCTION: Existing data on fragility spinal fractures prevalence in liver transplant candidates are scarce and inconsistent. This may be due to other comorbidities, besides hepatic osteodystrophy (HO), that contribute to bone loss and fragility fracture prevalence in chronic liver disease (CLD). OBJECTIVES: The aim of this study was to investigate the prevalence of spinal thoracic and lumbar fragility fractures among cirrhotic, non-chronic kidney disease (CKD), non-diabetic liver transplant candidates and to explore their relationship with clinical characteristics, laboratory markers and dual-energy x-ray absorptiometry (DXA) results. MATERIAL AND METHODS: This cross-sectional observational study was conducted at Merkur University Hospital, Croatia, between February 2019 and May 2023. Adult patients with liver cirrhosis referred for liver transplantation were included. Patients with acute infection, CKD, diabetes mellitus, malignancies, inflammatory bone diseases and those on corticosteroid or antiresorptive therapy were excluded. Clinical, laboratory and radiological assessment was carried out and patients were accordingly allocated into non-fractured and fractured group for the purpose of statistical analysis. RESULTS: A total of 90 patients were included in the study. There was 123 fractures, 87 (70.7 %) in the thoracic and 36 (29.3 %) in the lumbar region. Eighty-nine (72.4 %) fractures were grade 1, 31 (25.2 %) were grade 2 and 3 (2.4 %) were grade 3. Patients in the fractured group were significantly older (p < 0.001). No significant differences between fractured and non-fractured group according to laboratory and DXA parameters were noted. Subgroup with lumbar fractures had significantly lower bone mineral density values at L1-L4 region. Statistically significant negative correlation between bone specific alkaline phosphatase (BALP) and hip total BMD (rho = -0.414, p < 0.001) and spine total BMD (rho = -0.258, p = 0.014) values was found. CONCLUSION: Present study confirmed detrimental impact of CLD and HO on bone strength. DXA measurement correlated with the presence of lumbar fragility fractures. A combination of standard X-ray imaging and DXA is needed for adequate bone evaluation in pretransplant period and BALP could be useful for detecting HO in CLD. Searching for other risk factors and implementing bone turnover markers and additional imaging techniques for bone loss evaluation in liver transplant candidates is needed.

Isolated cor triatriatum sinistrum and pregnancy: case report and review of the literature.

PURPOSE: Isolated cor triatriatum sinistrum (CTS) is a heart malformation in which a perforated fibromuscular membrane divides the left atrium into two chambers. When communication between these chambers is restricted, a patient may have signs and symptoms of mitral stenosis. The later stages of pregnancy are associated with tachycardia and increases in intravascular volume. We describe how this altered physiology may affect pregnant women with asymptomatic CTS. We also review the literature relating to pregnancy in patients with CTS. CLINICAL FEATURES: A 30-yr-old primigravida, at 40 weeks of gestation with pre-pregnancy diagnosed asymptomatic CTS, was admitted for delivery. She had no cardiac symptoms during pregnancy, and her vaginal delivery under epidural analgesia was uneventful. This cardiac malformation is infrequently described in pregnant women, but a literature review showed that the physiology of late pregnancy with increases in hemodynamic variables may result in cardiac decompensation. CONCLUSION: While our patient with isolated CTS and an unrestrictive intra-atrial membrane had an asymptomatic pregnancy and an uneventful labour, the literature review suggests that the increase in intravascular volume and heart rate that occurs during late pregnancy and after delivery may result in cardiac decompensation, even in patients with asymptomatic CTS.

Trace elements and oxidative stress in hypertensive disorders of pregnancy.

PURPOSE: Due to increased metabolic requests, pregnancy can be considered as metabolic stress, especially if associated with oxidative stress triggered by disbalance of pro/antioxidants. The aim of the study was to determine serum concentrations of the trace elements iron (Fe), zinc (Zn) and copper (Cu) important in growth regulation and pro/anti-oxidant homeostasis, in relation to the total serum oxidant capacity (TOC) and total serum antioxidant capacity (TAC) in pregnant women with preeclampsia (n = 30) or with gestational hypertension (n = 30) and in healthy pregnant women (n = 37) and non-pregnant women (n = 30) as control groups expecting common differences between all pregnant women and controls and between preeclampsia and the other pregnancies indicating specific disbalance of the oxidative stress and analyzed trace elements. METHODS: Serum Fe was determined by spectrophotometric method, Cu and Zn were determined by atomic absorption spectrometry, TOC was determined by Enzymatic ANTIOX-CAP assay and TAC by Peroxide-activity assay. RESULTS: Serum Cu and TOC were significantly higher while Zn was lower in all pregnant groups regardless of hypertensive disorders. Serum Fe and TAC concentrations were found to be significantly higher in pregnant women with preeclampsia compared to pregnant controls. CONCLUSION: Increase of TOC in all pregnant women our study points to latent oxidative stress in pregnancy. Fe might have a role in etiopathogenesis of preeclampsia while the increase of TAC in the very beginning of preeclampsia might represent a stressdefence mechanism of the body. It has still to be revealed whether significantly higher serum Fe levels are associated with preeclampsia as a cause or as a consequence of this disorder.

Pregnancy and vaginal delivery in epidural analgesia in woman with cerebrospinal fluid shunt.

Hydrocephalus is a medical condition characterized by enlargement of cerebral ventricles due to abnormal cerebrospinal fluid accumulation. Hydrocephalic women with cerebrospinal fluid (CSF) shunts are now surviving to reproductive age, but still there are doubts regarding the mode of delivery, analgesia and anesthesia. Postpartal complications are more frequently described in deliveries ended by cesarean section than in spontaneous vaginal deliveries. We present a case of labor in the 32-year old woman, with congenital hydrocephalus and a preexisting ventriculoperitoneal (VP) shunt. After thorough review of current literature, we came to conclusion that without absolute neurosurgical indication or acute development of listed symptoms (headaches, irritability, light sensitivity, hyperesthesia nausea, vomiting, vertigo, migraines, seizures, weakness in the arms or legs, strabismus and double vision) the best way to finish the pregnancy of woman with VP shunt is spontaneous vaginal delivery with the use of epidural analgesia, mediolateral episiotomy and vacuum extraction.

Small-cell neuroendocrine carcinoma of the cervix associated with adenocarcinoma in situ: A case report with analysis of molecular abnormalities.

OBJECTIVE: We report a case of small-cell neuroendocrine carcinoma (SNEC) of uterine cervix associated with adenocarcinoma in situ (AIS), and we discuss prognosis, treatment benefit and goals of care. CASE REPORT: A 36-year-old pluriparous woman presented with vaginal bleeding. Bimanual pelvic examination revealed a exophytic mass arising from the posterior lip of the cervix. A transvaginal ultrasound revealed endometrium thickness of 7mm and exophytic 39x19mm mass arising from the posterior lip of the cervix. Histopathological analysis of the tumorous lesion revealed a small-cell neuroendocrine carcinoma admixed with adenocarcinoma in situ. Differential immunohistochemistry of the small-cell neuroendocrine carcinoma component was CKAE1/AE3, CD 56, TTF -1 positive with diffuse expression of chromogranin and synaptophysin. HPV type 18 has been detected through PCR sequencing analysis. The next generation sequencing based on a 324-gene panel showed that tumor was microsatellite stable (MSS) with low mutational burden (TMB). Only missense mutations of FGF10, HSD3B1, NBN, PBRM1, RICTOR, SDHA were detected. Radical surgery was performed and the patient received adjuvant chemotherapy consisting of cisplatin/etoposide for six cycles. During 12 months of follow up the patient is free of disease. CONCLUSION: Neuroendocrine tumour of uterine cervix is an extremely rare and aggressive cancer. Because of its low incidence there is still no standardized treatment approach based on controlled trials. Radical surgery and adjuvant or neoadjuvant chemotherapy is the mainstay of treatment.

OEIS complex-using MRI in diagnostic: Two case reports.

OEIS complex is an acronym for a specific, extremely rare, grouping of more commonly occurring congenital malformations consisting of an omphalocele (O), exstrophy of the cloaca (E), imperforate anus (I) and spinal defects (S). It is a midline defect occurring in early blastogenesis or in mesodermal migration. The incidence is not known, it has been estimated to be 1 in 200,000-400,000 pregnancies. The etiology is thought to be heterogeneous. Most cases occur sporadically but several reports show occurrence in siblings, concurrent occurrence in monozygotic twins, and more frequent occurrence in IVF pregnancies. We report two cases of OEIS complex. Case I was recognized postnatally in twin gestation. Case II, an IVF pregnancy, was diagnosed prenatally at 35 weeks gestation by ultrasound (US) and further confirmed by magnetic resonance imaging (MRI). The purpose of this report is to present two additional cases of this rare malformation, give further evidence of the OEIS complex occurring more commonly in multiple gestations (monozygotic twins) and IVF pregnancies and illustrate the importance of MRI in prenatal diagnostics in addition to US providing better prenatal counseling, perinatal care, and planning of reconstructive surgical management.

Successful pregnancy and delivery after kidney transplantation.

The kidney transplantation is considered to be the best therapy for terminal kidney disease, nowadays. Numerous studies have shown that pregnancy may be successful and may result in a delivery of a healthy baby after the kidney transplantation. Pregnant women who are the recipients of a kidney transplant have increased chances of developing hypertension, preeclampsia, as well as going into premature labour and frequently giving birth to newborns of low birth weight. We present a case of a successful pregnancy and delivery in a 32-year-old kidney transplant recipient who conceived spontaneously four years posttransplantation. The kidney transplantation has been done due to the chronic hypertension and the consequential kidney atrophy. During the pregnancy, the patient underwent antihypertension and immunosupressive drugs therapy. She was also being monitored by the gynaecologist and the nephrologist. The pregnancy was terminated in the 40th week by an urgent Caesarean section due to the fetal bradycardia. The patient gave birth to the healthy baby girl.

[P16NIK4a expression in premalignant cervical lesions]. / Ekspresija stanicnog proteina p16INK4a kod premalignih promjena vrata maternice.

Increased expression of viral E6 and E7 oncoproteins within the host cells results in an increase in cellular protein p16INK4a expression. That increase may serve as a marker for dysplastic and neoplastic cells of the uterine cervical epithelium. The aim of this study is to assess the p16INK4a protein expression in different stages of cytological abnormality in correlation with the proven high oncogenic risk human papillomavirus infection in order to demonstrate its value as the diagnostic marker. The study included cervical smear samples of 371 patient in whom the viral typization was done. In 171 patient, during their regular gynaecological examination, along with conventional Pap smear sampling an additional smear was taken. Two hundred cervix brush (Rovers Medical DevicesOss, the Netherlands) samples were obtained and analyzed by the LBC method and the ThinPrep2000 machine. All samples were analyzed cytologically, classified according to the Bethesda system, and immunostained with the p16INK4a-specific monoclonal antibody E6H4 (MTM Laboratories, Heidelberg, Germany). A significant difference is seen in p16 positivity between the cytological diagnosis of a high grade cervical squamous intraepithelial lesion and the group with mild dysplasia (chi2=146,48; D.F.=4; p<0,01) while most of the mild dysplastic lesions were p16 negative. In cases of p16 positive mild dysplastic lesions, that positivity is the result of viral integration into the host genome, which would imply lesions at high risk of further progression. The potential and value of p16INK4a protein not only as a prognostic, but also as a diagnostic factor is proved in this way. Reproducibility of the p16 staining technique renders it suitable for follow-up monitoring as well as for comparison of the cytological results.

Nonobstetrical Acute Abdomen during Pregnancy as a Consequence of Colorectal Carcinoma Perforation: Case Report and Review of the Literature.

Colorectal carcinoma is a rare but potentially fatal disease complicating pregnancy. It occurs most frequently in patients aged 50, although some studies report increasing incidence in women under the age of 40. Diagnosis of colorectal cancer during pregnancy is usually made at an advanced stage due to unspecific symptoms. We will present a case of an acute abdomen during pregnancy due to colorectal carcinoma perforation in a 33-year-old patient in her 26th week of gestation. Because of her abdominal condition, left hemicolectomy with colostomy was performed. Two hours after surgery, the patient gave birth to a male child weighing 910 g with an Apgar score of 2/6. The pathohistological finding indicated adenocarcinoma of the colon in Dukes stage B.

In-vitro fertilization resulting in heterotopic pregnancy, ovarian hyperstimulation and paralytic ileus: A case report.

Heterotopic pregnancy followed by ovarian hyperstimulation syndrome and paralytic ileus are rare and potentially fatal complications associated with assisted reproduction. A 37-year-old nulliparous woman, after in-vitro fertilization and embryo transfer, presented to the gynaecology department with severe abdominal distension, diffuse abdominal pain and vaginal bleeding. Transvaginal ultrasound examination revealed an intrauterine pregnancy, with both ovaries enlarged, measuring 10cmx10cm, with free fluid in the pouch of Douglas. Another gestational sac was visualized in the left adnexal region with a viable pregnancy, crown-rump length (CRL) 6.6 mm at 6 weeks of gestation. Left salpingectomy via laparotomy and uterine evacuation were performed. The patient's postoperative course was complicated by the development of ovarian hyperstimulation syndrome and paralytic ileus. The patient recovered well after receiving supportive therapy. Clinicians should always be aware of the complications associated with assisted reproductive techniques.

[Alternative hormone therapy in postmenopause]. / Alternative hormonskomu lijecenju u postmenopauzi.

Despite the fact that hormonal combination used in huge Wpmen's Health Initiative (WHI) is not common all over the world, and treated population is, because of age, in risk per se, study results have consternated not only lay users, but prescribers too. Namely, increased cancer, stroke and coronary heart disease risk associated with long term use of postmenopausal hormone therapy (HT) have rapidly declined the number of women treated with HT (either estrogen alone or estrogen plus progestogen). Considering recent position statements from leading organizations dealing with menopause, individualization of therapy and lower dosage HT becomes the state of the art. Not only WHI, but also results of other studies published during past few years, have induced curiosity for non-estrogen containing treatments in climacteric medicine. This review shows not only mandatory list of possibilities, but also emphasises which of the alternative and complementary treatments are evidence based regarding published randomized controlled trials.

Advantages and disadvantages of hysterosonosalpingography in the assessment of the reproductive status of uterine cavity and fallopian tubes.

BACKGROUND: Hysterosonosalpingography as a contrast ultrasound method is safer, cheaper and easier to perform than hysterosalpingography in the assessment of the uterine cavity and fallopian tubes. Is it feasible for all patients? Which is the main problem in the evaluation of target structures by ultrasound? METHODS: In a prospective study, 68 patients in the initial stage of the infertility treatment were examined by hysterosonosalpingography using saline NaCl infundibile and Echovist as contrast media. Subsequently, further status of the tubes and uterine cavity was assessed by the "gold standards", laparoscopy and hysteroscopy. RESULTS: Sensitivity and specificity of hysterosonosalpingography using NaCl infundibile for evaluation of the uterine cavity was 100 and 88.8%, respectively. Negative predictive value was 100% and positive predictive value 97%. Sensitivity and specificity of the method for the assessment of the tubal status was 100 and 66%, respectively, negative predictive value was 100% and positive predictive value was 61%. For the assessment of tubal patency using positive contrast Echovist the method has shown 100% sensibility and negative predictive value again but it reached a specificity of 77% and a positive predictive value of 70%. There were no evident complications during or after the procedure. CONCLUSION: Hysterosonosalpingography is useful in making decisions regarding further procedures for the diagnosis and treatment of infertility. Uterine cavity evaluation using saline is the method of choice. Tubal patency can be assessed only under ideal sonographic conditions. The method is feasible for early assessment of the reproductive status of uterine cavity and fallopian tubes as a simple, safe and cheap outpatient method prior to any following invasive procedure or even histerosalpingography.

Wilson's disease in pregnancy.

Wilson's disease is a rare autosomal recessive disorder of copper metabolism. It causes cirrhosis of the liver, consequently followed by disorder of the menstrual cycle and infertility. Successful decopperizing may lead to restoration of the ovulatory cycle and enable pregnancy. Increased copper levels may cause preeclampsia, intrauterine growth restriction and neurologic damages in the fetus. Pregnant women with decompensated liver cirrhosis face more complications, including bleeding from esophageal varices, liver failure, encephalopathy, and rupture of the splenic artery. We present a case of Wilson's disease in a patient who had spontaneously conceived three times. The first pregnancy ended with delivery of a healthy baby at term. In second pregnancy, medically induced abortion was performed in the 12th week because of deterioration of the underlying disease, liver cirrhosis with portal hypertension. In the same year, the patient underwent liver transplantation. Two years after the transplantation, the patient spontaneously conceived and delivered vaginally a healthy child.

Unexpected outcome in a treated XY reversal syndrome patient.

Hormone replacement therapy is mandatory to maintain quality of life and bone mineralization status in patients with gonadal dysgenesis. Occasionally, these patients need higher than recommended estrogen dosage to prevent signs and symptoms of hypoestrogenic state. Our 18-year-old female patient with XY sex reversal syndrome was gonadectomized and administered conventional hormone replacement therapy. Gonadoblastoma was found in the excised streak gonad. Five years after continuous replacement therapy, the patient reported unexpectedly hot flushes and amenorrhea in spite of regular hormone intake. Severe osteopenia was also detected. Unconventionally high estrogen dose was given with additional daily vitamin D and calcium supplement. Dual energy x-ray absorptiometry revealed lesser but evident osteopenia and the patient reported repeated bleeding without hot flushes on the new hormone regimen. Individualized dosage of estrogen is essential for these patients according to their bone status and subjective symptoms. Early therapy initiation along with continuous and frequent evaluation of bone status and quality of life is advised.

Case report of congenital cystic adenomatoid malformation type III with lethal outcome.

We present a rare case of congenital cystic adenomatoid malformation (CCAM) type III (mycrocystic) in young, 19 years old primigravida. Diagnosis has been accomplished by ultrasound examination in 26th week of gestation. Hyperechogenic, mycrocystic mass was found in left pulmonary lobe with contra lateral displacement of mediastinum, hypoplasia of the right lung and extensive polyhydramnios. Prenatal therapy was based upon a serial of amniodrainage procedures and pharmacological inhibition of amniotic fluid production and uterine activity. Spontaneous preterm labor occurred at 34 weeks of gestation, Diagnosis was confirmed postnatal. Infant was ventilated due to respiratory insufficiency and was operated at the age of 24 hours. Lethal outcome occurred during the second day due to heavy respiratory insufficiency provoked by pulmonary hypoplasia. We discuss about types of a disease, prenatal diagnostic and therapeutic possibilities and pregnancy outcome.