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17 result(s) for "Spiliopoulos, Michail"
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MicroRNA analysis in maternal blood of pregnancies with preterm premature rupture of membranes reveals a distinct expression profile
To determine the expression profile of microRNAs in the peripheral blood of pregnant women with preterm premature rupture of membranes (PPROM) compared to that of healthy pregnant women. This was a pilot study with case-control design in pregnant patients enrolled between January 2017 and June 2019. Patients with healthy pregnancies and those affected by PPROM between 20- and 33+6 weeks of gestation were matched by gestational age and selected for inclusion to the study. Patients were excluded for multiple gestation and presence of a major obstetrical complication such as preeclampsia, diabetes, fetal growth restriction and stillbirth. A total of ten (n = 10) controls and ten (n = 10) patients with PPROM were enrolled in the study. Specimens were obtained before administration of betamethasone or intravenous antibiotics. MicroRNA expression was analyzed for 800 microRNAs in each sample using the NanoString nCounter Expression Assay. Differential expression was calculated after normalization and log2- transformation using the false discovery rate (FDR) method at an alpha level of 5%. Demographic characteristics were similar between the two groups. Of the 800 miRNAs analyzed, 116 were differentially expressed after normalization. However, only four reached FDR-adjusted statistical significance. Pregnancies affected by PPROM were characterized by upregulation of miR-199a-5p, miR-130a-3p and miR-26a-5p and downregulation of miR-513b-5p (FDR adjusted p-values <0.05). The differentially expressed microRNAs participate in pathways associated with altered collagen and matrix metalloprotease expression in the extracellular matrix. Patients with PPROM have a distinct peripheral blood microRNA profile compared to healthy pregnancies as measured by the NanoString Expression Assay.
Insulin resistance: The possible link between gestational diabetes mellitus and hypertensive disorders of pregnancy
Gestational hypertension, preeclampsia, and diabetes are all associated with increased risks of poor maternal and perinatal outcomes. Pregnant women with gestational diabetes have been shown in population studies to have increased risk of pregnancy-associated hypertension compared with nondiabetic women. Moreover, pregnant patients with hypertension are at increased risk for developing gestational diabetes mellitus. It has been hypothesized that this association could be due, at least in part, to insulin resistance. Although insulin resistance is a physiologic phenomenon in normal pregnancy, in predisposed individuals this could lead to hyperinsulinemia with the development of gestational hypertension, gestational diabetes mellitus, or both.
Esophageal Achalasia : An Uncommon Complication during Pregnancy Treated Conservatively
A 38-year-old Caucasian woman, gravida 3 para 2, was admitted at 29 weeks of gestation because of vomiting, dysphagia for solids and liquids, and loss of weight. An enlargement of the anterior left neck region was noted on the palpation of the thyroid gland. An MRI of the neck showed a marked esophageal dilatation with the presence of food remnants along its length and the displacement of the trachea to the right. The findings of the upper gastrointestinal endoscopy and manometry were suggestive of esophageal achalasia. Conservative management with total parenteral nutrition (TPN) through a peripheral line proved to be successful. A healthy male baby was born by a cesarean section at 37 weeks. The patient underwent laparoscopic esophageal myotomy and fundoplication seven days postpartum.
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction, requiring extensive surgical intervention for survival. While it is believed to be an autosomal recessive disorder, most cases are sporadic. Through whole-exome sequencing in a child with MMIHS, we identified a de novo mutation, p.R178L, in the gene encoding the smooth muscle gamma-2 actin, ACTG2. We subsequently detected another de novo ACTG2 mutation, p.R178C, in an additional child with MMIHS. Actg2 transcripts were primarily found in murine urinary bladder and intestinal tissues. Structural analysis and functional experiments suggested that both ACTG2 mutants interfere with proper polymerization of ACTG2 into thin filaments, leading to impaired contractility of the smooth muscle. In conclusion, our study suggests a pathogenic mechanism for MMIHS by identifying causative ACTG2 mutations.
Risk of peripartum hysterectomy by mode of delivery and prior obstetric history: data from a population-based study
Purpose To provide an estimate of the incidence of peripartum hysterectomy in the state of New Jersey and calculate the effect of mode of delivery and prior obstetric history. Methods A perinatal-linked dataset provided by the Maternal Child Health Epidemiology Program in the New Jersey Department of Health was used to obtain information from birth certificates and hospital discharge records. Using multivariate logistic regression, various demographic and clinical factors were assessed for association with peripartum hysterectomy. Results A total of 1,004,116 births were identified between 1997 and 2005 and 853 peripartum hysterectomies were performed (0.85/1,000 deliveries). Parity increased the risk of hysterectomy with nulliparous women having approximately half the risk compared to multiparous women. Cesarean delivery with no previous c-section almost doubled the risk (OR 2.20, CI 1.80–26.69) while in the presence of a previous c-section the risk was almost four times higher (OR 4.51, CI 3.76–5.40). Operative vaginal delivery did not result in any increase in the risk. Conclusions Mode of delivery and prior obstetric history are major risk factors for peripartum hysterectomy. Patients desiring cesarean delivery need to be counseled on the risk of this serious complication.
Vulvar and breast Paget’s disease with synchronous underlying cancer: a unique association
Background We report a unique case of Paget’s disease of vulva and breast. Sequentially the patient had invasive ductal carcinoma of the breast, 5 years later was diagnosed with vulvar Paget’s with underlying adenocarcinoma and after another 2 years was diagnosed with Paget’s disease of the breast. Case A 58-year-old woman with invasive ductal cancer of the left breast was treated with lumpectomy, lymph node dissection, radiation therapy and tamoxifen. Five years later and after complaints of longstanding vulvar pruritus, the patient was diagnosed with vulvar Paget’s disease and treated with simple vulvectomy, which revealed a concurrent underlying adenocarcinoma. Subsequently there was recurrence of vulvar malignancy and wide local excision was performed. Seven years after the initial diagnosis of the breast cancer, a biopsy of a left areolar red, ulcerated lesion revealed Paget’s disease of the breast. Conclusion Physicians need to be cognizant of the rare occurrence of mammary and extramammary Paget’s disease with underlying malignancies in both locations. A thorough physical examination including biopsy is essential for early detection and appropriate management.
The clinical utility of oral glucose tolerance test at term: can it predict fetal macrosomia?
Objective The goal of this study was to assess the correlation between true fetal macrosomia and abnormal oral glucose tolerance test (OGTT) in pregnant women at term gestation who had a negative glucose challenge screen (GCT) at 24–28 weeks. Study design In this cohort observational study, we enrolled all term pregnant patients who presented to our antenatal unit with estimated fetal weight >90th percentile (or >4,000 g) and negative 50 g GCT. The women underwent a 3-h (100 g) OGTT test. Patient’s demographics, GCT and OGTT test results, mode of delivery and pregnancy outcomes were recorded and analyzed. Results One hundred and seventy women (mean age 30.2 + 4.6 years, range 19–44) were recruited over 15-month period. Ten patients (5.9%) were identified as having impaired glucose metabolism at term. In this sub-group, we found no correlation between GCT values at 24–28 weeks, family history of diabetes mellitus, the patient’s BMI or weight at term, and the diagnosis of impaired glucose metabolism. There was no statistically significant difference in the mean fetal weight in patients with normal and abnormal OGTT. No shoulder dystocia or third and fourth degree vaginal tears were reported among the women with suspected fetal macrosomia and impaired glucose metabolism. Conclusions There was no correlation between true fetal macrosomia and an abnormal 3-h (100 g) OGTT at term. A larger-scale study is needed to determine the clinical significance of performing an OGTT at term for all patients with macrosomia and negative gestational diabetes screen.
Diagnosis and treatment of acute isolated proximal internal carotid artery occlusions: a narrative review
The clinical manifestations of proximal (extracranial) internal carotid artery occlusions (pICAOs) may range from asymptomatic to acute, large, and devastating ischemic strokes. The etiology and pathophysiology of the occlusion, intracranial collateral status and patient’s premorbid status are among the factors determining the clinical presentation and outcome of pICAOs. Rapid and accurate diagnosis is crucial and may be assisted by the combination of carotid and transcranial duplex sonography, or a computed tomography/magnetic resonance angiography (CTA/MRA). It should be noted that with either imaging modalities, the discrimination of a pseudo-occlusion of the extracranial internal carotid artery (ICA) from a true pICAO may not be straightforward. In the absence of randomized data, the management of acute, symptomatic pICAOs remains individualized and relies largely on expert opinion. Administration of intravenous thrombolysis is reasonable and probably beneficial in the settings of acute ischemic stroke with early presentation. Unfortunately, rates of recanalization are rather low and acute interventional reperfusion therapies emerge as a potentially powerful therapeutic option for patients with persistent and severe symptoms. However, none of the pivotal clinical trials on mechanical thrombectomy for acute ischemic stroke randomized patients with isolated extracranial large vessel occlusions. On the contrary, several lines of evidence from non-randomized studies have shown that acute carotid endarterectomy, or endovascular thrombectomy/stenting of the ICA are feasible and safe, and pοtentially beneficial. The heterogeneity in the pathophysiology and clinical presentation of acute pICAOs renders patient selection for an acute interventional treatment a complicated decision-making process. The present narrative review will outline the pathophysiology, clinical presentation, diagnostic challenges, and possible treatment options for pICAOs.