scholarly journals The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

2020 ◽  
Vol 9 (12) ◽  
pp. 3995
Author(s):  
Angelika Buczyńska ◽  
Iwona Sidorkiewicz ◽  
Sławomir Ławicki ◽  
Adam Krętowski ◽  
Monika Zbucka-Krętowska
Keyword(s):  
Down Syndrome ◽  
Apolipoprotein E ◽  
High Sensitivity ◽  
Control Group ◽  
Study Group ◽  
Diagnostic Efficiency ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Noninvasive Biomarker ◽  
Medical University

Prenatal screening for Down syndrome (DS) is based on both noninvasive and invasive methods. Noninvasive, cell-free fetal DNA genetic tests are expensive, whereas biochemical methods remain imprecise. Amniocentesis is the most frequently used invasive diagnosis procedure, characterized by 99.8% diagnostic efficiency and less than 1% risk of miscarriage. The aim of this study was to evaluate the screening value of apolipoprotein E (ApoE) as a potential noninvasive biomarker for prenatal DS assessment. This study was conducted on a group of female patients who decided to undergo routine amniocentesis between the 15th and 18th week of pregnancy at the Department of Reproduction and Gynecological Endocrinology of the Medical University of Bialystok, Poland. For the purpose of this study, 20 women with DS fetuses were selected as the study group, and 20 healthy pregnant women with euploid fetus karyotypes as the control group. The plasma levels of ApoE were significantly higher in the study group compared to healthy subjects (p < 0.05). The area under the receiver operating characteristic (ROC) curve was 0.978 (p < 0.001), with the cut-off set to 1.37 mg/mL, which was characterized by 80% of sensitivity and 100% of specificity. The high sensitivity and specificity demonstrate the screening utility of maternal ApoE concentration in prenatal fetal DS screening.

Down syndrome and cell-free fetal DNA in archived maternal serum

2002 ◽  
Vol 187 (5) ◽  
pp. 1217-1221 ◽  
Author(s):  
Thomas Lee ◽  
Erik S. LeShane ◽  
Geralyn M. Messerlian ◽  
Jacob A. Canick ◽  
Antonio Farina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Effect of Tooth Agenesis on Mandibular Morphology and Position

2021 ◽  
Vol 18 (22) ◽  
pp. 11876
Author(s):  
Agnieszka Jurek ◽  
Dariusz Gozdowski ◽  
Ewa Monika Czochrowska ◽  
Małgorzata Zadurska
Keyword(s):  
Permanent Tooth ◽  
Control Group ◽  
Tooth Agenesis ◽  
Study Group ◽  
Mandibular Position ◽  
Mandibular Body ◽  
Dental Abnormality ◽  
And Gender ◽  
Medical University ◽  
Tooth Buds

Congenital missing teeth (OMIM #106600) is the most common dental abnormality. The aim of the study was to evaluate the effects of tooth agenesis on the total mandibular length, length of the mandibular body and alveolar process, and the mandibular anteroposterior position. The material was obtained from the Department of Orthodontics, Medical University of Warsaw. The study group included 116 patients aged 9–18 years with a congenital absence of at least two permanent tooth buds in the maxilla and/or mandible (mean: 6.2 teeth missing/patient). All patients were Caucasians: 68 (59%) females and 48 (41%) males. The control group included 115 patients without tooth agenesis matched with the age and gender of the study group. A cephalometric analysis was performed, and it was focused on assessing anteroposterior mandibular measurements. This assessment was based on 17 measurements (12 linear and 5 angular). Statistical analysis of the cephalometric measurements between the study group and the control group showed significant changes regarding selected mandibular measurements. Tooth agenesis does not affect the total length of the mandible and the length of the mandibular body, but it might reduce the length of the mandibular arch length and result in a more retrusive mandibular position.

scholarly journals Pancreatoduodenectomy for Periampullary Tumors Presenting with Acute Pancreatitis

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Xuefeng Cao ◽  
Xixiu Wang ◽  
Xiaoliang Xu ◽  
Yanmin Lu ◽  
Baolei Zhao ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Operative Time ◽  
Laboratory Data ◽  
Biliary Fistula ◽  
University Hospital ◽  
Control Group ◽  
Study Group ◽  
Course Of Disease ◽  
Periampullary Tumors ◽  
Medical University

Background. Periampullary tumors (PT) may rarely present as acute pancreatitis (AP) or acute recurrent pancreatitis (ARP). Unlike other cases of AP and ARP, these conditions necessitate pancreaticoduodenectomy (PD), and timely diagnosis is crucial. Materials and Methods. A retrospective review of clinical, radiological, surgical, and pathological data was conducted for patients admitted to the Binzhou Medical University Hospital during the period from January 2010 to December 2017, for AP or ARP caused by PT. All patients included in the study group had undergone PD. The perioperative data for these patients was compared with data for patients with PT but without AP or ARP who underwent PD during the same period (control group). Results. During the study period, 412 patients with AP or ARP were treated; among this group, 15 patients had PT. Compared with controls, patients in the study group were younger in age and had a longer course of disease, more frequent hospitalizations, and more severe derangements in laboratory data (P<0.05). Operative time and intraoperative blood loss were significantly higher in the study group, but the incidence of postoperative outcomes such as pancreatic/biliary fistula, abdominal infection, postoperative hospital stay, and mortality were similar between groups (P>0.05). Conclusions. Neither AP nor ARP has any adverse impact on the outcomes of PD. However, in the treatment of younger patients suffering from AP or ARP, unexplained pancreatic duct dilation and weight loss should raise the suspicion of PT. EUS and EUS-FNA may be helpful in making the diagnosis.

Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses

2008 ◽  
Vol 28 (5) ◽  
pp. 425-433 ◽  
Author(s):  
Radek Vodicka ◽  
Radek Vrtel ◽  
Ladislav Dusek ◽  
Martin Prochazka ◽  
Eva Schneiderova ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Chemoprophylaxis of Recurrent Otitis Media Using Trimethoprim/Sulfamethoxazole

1982 ◽  
Vol 16 (5) ◽  
pp. 387-390 ◽  
Author(s):  
John D. Gaskins ◽  
Robert J. Holt ◽  
Catherine U. Kyong ◽  
C. Wayne Weart ◽  
James Ward
Keyword(s):  
High Risk ◽  
Otitis Media ◽  
Pediatric Population ◽  
Acute Otitis Media ◽  
Early Spring ◽  
Control Group ◽  
Study Group ◽  
Chi Square ◽  
Exact Test ◽  
Medical University

This study was undertaken during the late fall, winter, and early spring months to determine the efficacy of daily trimethoprim/sulfamethoxazole (TMP/SMX) administration in the prevention of recurrent acute otitis media (RAOM) in a specific high-risk pediatric population. Twenty-one ambulatory patients, 10 in the study group and 11 in the control group, were selected from a medical university clinic and a local private practice. The study group receiving prophylactic therapy for six months suffered no recurrences, as compared with eight children suffering one recurrence each in the control group that was treated only acutely. The results were significant at p <0.005 with df = 1, determined by the Fischer's exact test and the chi-square method using Yates's correction factor. These data indicated that a mean dose of TMP/SMX 6.8/34 mg/kg/d divided into twice daily doses and given for six months was safe and effective in controlling RAOM infections in a high-risk pediatric population.

22 Fetal down syndrome is associated with increased cell-free fetal DNA levels in archived maternal serum samples

2001 ◽  
Vol 185 (6) ◽  
pp. S79 ◽  
Author(s):  
Thomas Lee ◽  
Erik Leshane ◽  
Geralyn Messerlian ◽  
Jacob Canick ◽  
Marshall Carpenter ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Serum Samples ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals The clinical manifestations of keratoconus in the patients presenting with Down syndrome

2016 ◽  
Vol 11 (3) ◽  
pp. 118-120
Author(s):  
M. M Bikbov ◽  
V. K Surkova ◽  
E. L Usubov ◽  
Karine Khachaturovna Oganisyan
Keyword(s):  
Down Syndrome ◽  
General Population ◽  
Clinical Symptoms ◽  
Corneal Thickness ◽  
Clinical Manifestations ◽  
Control Group ◽  
Study Group ◽  
Healthy Children ◽  
Ophthalmological Examination ◽  
Biometric Parameters

Down syndrome is one the most widespread forms of genomic pathology accompanied by mental retardation and impairment of cognitive functions. One of the commonest eye diseases in the patients with Down syndrome is corneal ectasia that occurs 10 times more frequently in the children with Down syndrome than in the general population. Objective. Of the present study was the comparative analysis of the biometric parameters of the cornea and the clinical manifestations of keratoconus in the patients presenting with Down syndrome. Materials and methods. We undertook the comprehensive analysis of the biometric parameters of the cornea in 54 patients (108 eyes) with Down syndrome who made up the main study group. The control group was comprised of 62 practically healthy children (124 eyes). Results. The patients presenting with Down syndrome were found to have a higher refractive power of the cornea, a more pronounced elevation of the posterior corneal surface and its irregular patterns, a smaller corneal thickness, and lower degree of corneal hysteresis in comparison with the control children. The verified diagnosis of keratoconus was established in 11 patients of the main group. Conclusion. The present study has revealed keratoconus in 11 (20.4%) children presenting with Down syndrome which suggests a higher prevalence of this pathology in our study group in comparison with its mean prevalence reported thus far for the general population. The early subclinical forms of ceratoconus are known to more frequently occur in the children aged from 12 to 18 years, with the incidence of its later stages being especially high in the group of the patients between 19 and 38 years of age. This discrepancy is supposed to be attributable to the progression of the clinical symptoms of the eye disease with age and its late diagnostics. The deviation of corneal biometric characteristics from the respective normal values documented in 79.6% of the patients included in the present study should be regarded as reflecting the objective situation. It is concluded that the patients presenting with Down syndrome should be referred to the group at enhanced risk of development of keratoconus and undergo the regular ophthalmological examination.

scholarly journals Detection and significance of TNF-α and hs-CRP in the pleural effusion of patients with diabetes and pulmonary tuberculosis

2019 ◽  
Vol 17 ◽  
pp. 205873921982862
Author(s):  
Xin Xue ◽  
Yi Qiu ◽  
Sizhe Cao ◽  
Ying Yue ◽  
Xiaofang Sun ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Pulmonary Tuberculosis ◽  
High Sensitivity ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Study Group ◽  
Tnf Α ◽  
Patients With Diabetes ◽  
Hs Crp ◽  
Factor Α

It is postulated that high-sensitivity C-reactive protein (hs-CRP) and tumor necrosis factor α (TNF-α) are diagnostic utilities for pleural effusion. This study was designed to explore the detection and significance of TNF-α and hs-CRP in the pleural effusion of patients with diabetes and pulmonary tuberculosis. A total of 60 patients with diabetes and pulmonary tuberculosis pleural effusion were selected as the study group, while 60 patients with pulmonary tuberculosis pleural effusion were considered as the control group. The expression of TNF-α and hs-CRP in the two groups was determined from pleural effusion by enzyme-linked immunosorbent assay (ELISA). The expression levels of TNF-α and hs-CRP in pleural effusion of the study group were significantly ( P < 0.05) higher than the control group, and the sensitivity and specificity of the combined detection were significantly ( P < 0.05) higher than those of the separate detection. The expression of TNF-α and hs-CRP in the pleural effusion of patients with diabetes and pulmonary tuberculosis increased remarkably, which plays an important role in the diagnosis and treatment helping with differential diagnosis and evaluation of severity and prognosis by related detection of changes of these indexes, especially the combined detections.

scholarly journals Quantitative Proteomic (iTRAQ) Analysis of 1st Trimester Maternal Plasma Samples in Pregnancies at Risk for Preeclampsia

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Varaprasad Kolla ◽  
Paul Jenö ◽  
Suzette Moes ◽  
Olav Lapaire ◽  
Irene Hoesli ◽  
...  
Keyword(s):  
At Risk ◽  
Down Syndrome ◽  
Maternal Plasma ◽  
Control Group ◽  
Study Group ◽  
Plasma Samples ◽  
Itraq Analysis ◽  
Galectin 3 ◽  
Healthy Control ◽  
A Current

A current major obstacle is that no reliable screening markers exist to detect pregnancies at risk for preeclampsia. Quantitative proteomic analysis employing isobaric labelling (iTRAQ) has been suggested to be suitable for the detection of potential plasma biomarkers, a feature we recently verified in analysis of pregnancies with Down syndrome foetuses. We have now examined whether this approach could yield biomarkers to screen pregnancies at risk for preeclampsia. In our study, we used maternal plasma samples obtained at 12 weeks of gestation, six from women who subsequently developed preeclampsia and six with uncomplicated deliveries. In our analysis, we observed elevations in 10 proteins out of 64 proteins in the preeclampsia study group when compared to the healthy control group. These proteins included clusterin, fibrinogen, fibronectin, and angiotensinogen, increased levels of which are known to be associated with preeclampsia. An elevation in the immune-modulatory molecule, galectin 3 binding protein, was also noted. Our pilot study, therefore, indicates that quantitative proteomic iTRAQ analysis could be a useful tool for the detection of new preeclampsia screening markers.

scholarly journals The Influence of Maternal Obesity on Cell-Free Fetal DNA and Blood Pressure Regulation in Pregnancies with Hypertensive Disorders

Medicina ◽  
2021 ◽  
Vol 57 (9) ◽  
pp. 962
Author(s):  
Aleksandra Stupak ◽  
Wojciech Kwaśniewski ◽  
Anna Goździcka-Józefiak ◽  
Anna Kwaśniewska
Keyword(s):  
Blood Pressure ◽  
Pregnant Women ◽  
Maternal Obesity ◽  
Gestational Hypertension ◽  
Blood Pressure Regulation ◽  
Control Group ◽  
Pressure Regulation ◽  
Endothelium Dysfunction ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Background and Objectives: obesity and blood pressure disorders are one of the main risk factors for antenatal, intra, postpartum, and neonatal complications. In preeclampsia (PE), the placental hypoxia leads to vascular endothelium dysfunction, cell necrosis, and apoptosis. This condition is associated with the release of free fetal DNA (cffDNA) circulating in plasma. The disturbance of the efficiency of vasodilatation and blood pressure regulation in PE can be confirmed by analyzing the apelin, salusin, and prosalusin. This study aimed to assess the influence of obesity on cffDNA, and the effectiveness of maintaining normal blood pressure in patients with preeclampsia and gestational hypertension. Material and Methods: the research material was blood serum and oral mucosa swabs, obtained from 168 patients. Pregnant women were divided into the following: a control group (C)—67 women; a gestational hypertension group (GH)—35 patients; a preeclampsia with obesity group (PE + O) (pre-gravid BMI > 30)—23 patients. The rest were lean preeclamptic women (PE)—66 patients—(pre-gravid BMI < 25 in 43 women). Results: the cffDNA was observed in 1.50% of women in the C group, in 2.45% in the GH group, but in 18.18% of lean patients with preeclampsia. The cffDNA was detected in 58% of obese pregnant women with PE. The greater the placental hypoxia was in preeclampsia, the less efficient the hypotensive mechanisms, according to an analysis of the studied adipokines. The prosalusin concentration was significantly lower in the PE group with cffDNA than in the PE group without it (p = 0.008). Apelin was higher in the PE group with cffDNA (p = 0.006) compared to other groups. The same results were also observed in the subgroup with obesity. Conclusion: in preeclamptic women, obesity seems to act as an additive factor of placental damage by means of the dysregulation of hypotensive mechanisms.

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