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https://www.readbyqxmd.com/read/27959436/novel-cc2d2a-compound-heterozygous-mutations-cause-joubert-syndrome
#1
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen
Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput sequencing revealed that JS was caused by coiled‑coil and C2 domain containing 2A (CC2D2A) compound heterozygous mutations...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27921085/effects-of-autologous-platelet-rich-plasma-on-implantation-and-pregnancy-in-repeated-implantation-failure-a-pilot-study
#2
Leila Nazari, Saghar Salehpour, Sedighe Hoseini, Shahrzad Zadehmodarres, Ladan Ajori
BACKGROUND: Repeated implantation failure (RIF) is a major challenge in reproductive medicine and despite several methods that have been described for management, there is little consensus on the most effective one. OBJECTIVE: This study was conducted to evaluate the effectiveness of platelet-rich plasma in improvement of pregnancy rate in RIF patients. MATERIALS AND METHODS: Twenty women with a history of RIF who were candidates for frozen-thawed embryo transfer were recruited in this study...
October 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/27920694/pancreatic-and-hepatic-metastasis-of-an-undiagnosed-choriocarcinoma-an-exceptional-cause-of-haemoperitoneum-in-young-women-report-of-a-rare-case
#3
Nishat Fatema, Neeru Vinod Arora, Fatma Majid Al Abri, Yaseer Muhammad Tareq Khan
Haemoperitoneum in women of reproductive age usually suggests either ruptured ectopic pregnancy or ruptured ovarian cysts. Metastatic choriocarcinoma is considered the least common cause of haemoperitoneum in women of childbearing age. We report a rare case of pancreatic and hepatic metastasis of choriocarcinoma in a young, 30-year-old female who had delivered 10 months prior at term gestation with no previous history of gestational trophoblastic disease or molar pregnancy. She had a short history of fever and pain in the right hypochondrium, with findings of hypovolaemic shock due to intraperitoneal haemorrhage...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#4
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27885689/pathogenesis-and-diagnosis-of-placental-disorders-is-related-to-abnormal-methylation-at-promoters-of-placental-vascularization-mediating-genes
#5
Beenish Rahat, Rauf Ahmad Najar, Abid Hamid, Rashmi Bagga, Jyotdeep Kaur
OBJECTIVES: To investigate the role of methylation levels at promoter regions of placental vascularization genes (VEGF, EGFR and c-jun) in pathogenesis and diagnosis of placental disorders. METHODS: We analyzed DNA and histone methylation at promoters of VEGF, EGFR and c-jun via methylation-sensitive high resolution melting and chromatin immunoprecipitation assay in pregnant women with normal pregnancy in first, second and third trimester (n = 30 in each group) and pregnant women with pregnancy complicated with preeclampsia (n = 30) and hydatidiform mole (n = 15)...
November 24, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27872513/vaginal-lactoferrin-modulates-pge2-mmp-9-mmp-2-and-timp-1-amniotic-fluid-concentrations
#6
Alessandro Trentini, Martina Maritati, Carlo Cervellati, Maria C Manfrinato, Arianna Gonelli, Carlo A Volta, Fortunato Vesce, Pantaleo Greco, Franco Dallocchio, Tiziana Bellini, Carlo Contini
Inflammation plays an important role in pregnancy, and cytokine and matrix metalloproteases (MMPs) imbalance has been associated with premature rupture of membranes and increased risk of preterm delivery. Previous studies have demonstrated that lactoferrin (LF), an iron-binding protein with anti-inflammatory properties, is able to decrease amniotic fluid (AF) levels of IL-6. Therefore, we aimed to evaluate the effect of vaginal LF administration on amniotic fluid PGE2 level and MMP-TIMP system in women undergoing genetic amniocentesis...
2016: Mediators of Inflammation
https://www.readbyqxmd.com/read/27793387/effect-of-pregnancy-associated-plasma-protein-a-papp-a-single-nucleotide-polymorphisms-on-the-level-and-activity-of-papp-a-and-the-hormone-profile-in-fluid-from-normal-human-small-antral-follicles
#7
Jane Alrø Bøtkjær, Tanni Borgbo, Søren Kløverpris, Pernille Rimmer Noer, Claus Oxvig, Claus Yding Andersen
OBJECTIVE: To reveal a possible relationship between two single nucleotide polymorphisms (SNPs) in PAPP-A-1224 (rs7020782) and 327 (rs12375498)-and the level and activity of PAPP-A in follicular fluid (FF) of human small antral follicles, and to analyze the intrafollicular hormone levels. DESIGN: Laboratory investigation. SETTING: University hospital. PATIENT(S): Fifty volunteer women who contributed a total of 210 samples of FF from normal small antral follicles...
December 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27777478/clinical-and-radiological-correlations-in-patients-with-gestational-trophoblastic-disease
#8
Lana de Lourdes Aguiar Lima, Raphael Câmara Medeiros Parente, Izildinha Maestá, Joffre Amim Junior, Jorge Fonte de Rezende Filho, Carlos Antonio Barbosa Montenegro, Antônio Braga
Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase...
July 2016: Radiologia Brasileira
https://www.readbyqxmd.com/read/27744215/solitary-lung-metastasis-from-gestational-choriocarcinoma-resected-six-years-after-hydatidiform-mole-a-case-report
#9
Yoshihito Iijima, Hirohiko Akiyama, Yuki Nakajima, Hiroyasu Kinoshita, Iwao Mikami, Hidetaka Uramoto, Tomomi Hirata
INTRODUCTION: Recently, the opportunity to encounter lung metastasis from choriocarcinoma has become very rare for thoracic surgeons, since chemotherapy works very well and the operative indications for lung metastasis are limited. PRESENTATION OF CASE: A 45-year-old woman with a past history of hydatidiform mole six years previously was found to have a nodulous chest shadow in the right middle lung field on a chest radiography. She was also suspected of having an ovarian tumor and underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy...
September 30, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27738663/fertility-sparing-surgery-in-gestational-trophoblastic-neoplasia-a-report-of-4-cases
#10
Malihe Hasanzadeh, Ftemeh Vahid Roodsari, Shahnaz Ahmadi, Masoumeh Gavedan Mehr, Tabari Azadeh
BACKGROUND: Gestational trophoblastic neoplasia (GTN) is a curable disease that involves the development of malignant tumor in the woman after a normal or molar pregnancy. The position of surgery in GTN is not properly specified and is changing due to new chemotherapy protocols. However, the role of surgery is highlighted in chemotherapy-resistant GTN. Other indications of surgery in trophoblastic diseases are drug toxicity and uterine perforation. Based on the fact that most women in certain age tend to preserve fertility, this study reported 4 cases of successful treatment after fertility sparing surgery...
September 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/27716354/accuracy-of-p57-kip2-compared-with-genotyping-for-the-diagnosis-of-complete-hydatidiform-mole-protocol-for-a-systematic-review-and-meta-analysis
#11
Jose Mauro Madi, Antonio Rodrigues Braga, Machline Paim Paganella, Isnard Elman Litvin, Eliana Márcia Da Ros Wendland
BACKGROUND: Distinguishing hydatidiform moles (HMs) from non-molar specimens and the subclassification of HM are important because complete hydatidiform mole (CHM) is associated with an increased risk of gestational trophoblastic neoplasia. However, diagnosis based solely on morphology has poor interobserver reproducibility. Recent studies have demonstrated that the use of p57(KIP2) immunostaining improves diagnostic accuracy for CHM. METHODS: We will conduct a systematic review of prospective and retrospective studies to evaluate the accuracy of p57(KIP2) immunostaining compared with molecular genotyping for the diagnosis of CHM...
October 4, 2016: Systematic Reviews
https://www.readbyqxmd.com/read/27703642/immunohistochemistry-study-of-p53-and-c-erbb-2-expression-in-trophoblastic-tissue-and-their-predictive-values-in-diagnosing-malignant-progression-of-simple-molar-pregnancy
#12
Malihe Hasanzadeh, Norrie Sharifi, Marjaneh Farazestanian, Seyed Saman Nazemian, Faezeh Madani Sani
BACKGROUND: Finding a tumor marker to predict the aggressive behavior of molar pregnancy in early stages has yet been a topic for studies. OBJECTIVES: In this survey we planned to study patients with molar pregnancy to 1) assess the p53 and c-erbB-2 expression in trophoblastic tissue, 2) to study the relationship between their expression intensity and progression of a molar pregnancy to gestational trophoblastic neoplasia, and 3) to determine a cut off value for the amount of p53 and c-erbB-2 expression which might correlate with aggressive behavior of molar pregnancy...
June 2016: Iranian Journal of Cancer Prevention
https://www.readbyqxmd.com/read/27696434/sonographic-diagnosis-of-partial-versus-complete-molar-pregnancy-a-reappraisal
#13
Julia L Savage, Katherine E Maturen, Erika L Mowers, Katherine B Pasque, Ashish P Wasnik, Vanessa K Dalton, Jason D Bell
PURPOSE: To assess the prospective sonographic diagnosis of molar pregnancy and compare sonographic features of complete versus partial molar pregnancy. METHODS: This institutional review board--approved retrospective chart review conducted between 2001 and 2011 identified 70 women with a histopathologic diagnosis of molar pregnancy and with available sonograms. Clinical data, images, and reports were reviewed, and features enumerated by radiologists blinded to the final diagnosis...
October 3, 2016: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27679689/imaging-and-clinical-data-of-placental-site-trophoblastic-tumor-a-case-report
#14
Maryam Niknejadi, Firoozeh Ahmadi, Farnaz Akhbari
Placental site trophoblastic tumor (PSTT) is a very rare variant of gestational trophoblastic tumor. It can occur after normal termination of pregnancy or spontaneous abortion and ectopic or molar pregnancy. There is a wide range of clinical manifestations from a benign condition to an aggressive disease with fatal outcome. One of the most important characteristics of PSTT, unlike other forms of gestational trophoblastic diseases (GTD) is the presence of low beta-subunit of human chorionic gonadotropin (β-hCG) levels because it is a neoplastic proliferation of intermediate trophoblastic cells...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27648323/ectopic-molar-pregnancy-diagnostic-efficacy-of-magnetic-resonance-imaging-and-review-of-the-literature
#15
Yasushi Yamada, Satoshi Ohira, Teruyuki Yamazaki, Tanri Shiozawa
Ectopic molar pregnancy is extremely rare, and preoperative diagnosis is difficult. Our literature search found only one report of molar pregnancy diagnosed preoperatively. Moreover, there is no English literature depicting magnetic resonance image (MRI) findings of ectopic molar pregnancy. We report a case of ectopic molar pregnancy preoperatively diagnosed using MRI. A literature review of 31 cases of ectopic molar pregnancy demonstrated that lesions have been found in the fallopian tube (19 cases, 61%), ovary (5 cases, 16%), cornu (3 cases, 10%), peritoneum (2 cases, 6%), uterine cervix (1 case, 3%), and cesarean scar (1 case, 3%)...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27646655/prevention-of-unintended-pregnancy-and-use-of-contraception-important-factors-for-preconception-care
#16
Helena Kopp Kallner, Kristina Gemzell Danielsson
Preservation of fertility and optimizing health before pregnancy is becoming increasingly important in societies where childbirth often is postponed. Research shows that as women postpone childbirth they achieve higher levels of education and higher incomes. This leads to advantages for their children and for society. However, as women postpone childbearing they are at risk for contracting conditions which may affect fertility and/or pregnancies, pregnancy outcome, and the newborn child. Preconception counseling is therefore becoming increasingly important...
September 20, 2016: Upsala Journal of Medical Sciences
https://www.readbyqxmd.com/read/27640962/is-chemotherapy-necessary-for-patients-with-molar-pregnancy-and-human-chorionic-gonadotropin-serum-levels-raised-but-falling-at-6months-after-uterine-evacuation
#17
Antonio Braga, Berenice Torres, Marcelo Burlá, Izildinha Maestá, Sue Yazaki Sun, Lawrence Lin, José Mauro Madi, Elza Uberti, Maurício Viggiano, Kevin M Elias, Ross S Berkowitz
OBJECTIVE: To compare the outcomes of Brazilian patients with molar pregnancy who continue human chorionic gonadotropin (hCG) surveillance with those treated with chemotherapy when hCG was still positive, but falling at 6months after uterine evacuation. METHODS: Retrospective chart review of 12,526 patients with hydatidiform mole treated at one of nine Brazilian reference centers from January 1990 to May 2016. RESULTS: At 6months from uterine evacuation, 96 (0...
December 2016: Gynecologic Oncology
https://www.readbyqxmd.com/read/27625583/clinical-presentation-and-treatment-outcome-of-molar-pregnancy-ten-years-experience-at-a-tertiary-care-hospital-in-dammam-saudi-arabia
#18
Ayman A Al-Talib
OBJECTIVES: To study the clinical presentation and treatment outcome of molar pregnancy at a Tertiary Care Hospital in Dammam, Saudi Arabia. MATERIALS AND METHODS: Reviewed medical records of all molar pregnancy cases among all the deliveries at a tertiary care hospital in Dammam from 2005 to 2014, after approval by institutional ethical review committee. Data abstracted included patient's age, parity, presenting symptoms, gestational age at diagnosis, uterine size, ultrasonographic findings, BhCG level at the time of diagnosis and at follow-up after evacuation, and blood loss during evacuation...
September 2016: Journal of Family & Community Medicine
https://www.readbyqxmd.com/read/27621838/two-novel-mutations-in-the-khdc3l-gene-in-asian-patients-with-recurrent-hydatidiform-mole
#19
Maryam Rezaei, Ngoc Minh Phuong Nguyen, Leila Foroughinia, Pratima Dash, Fatemeh Ahmadpour, Ishwar Chandra Verma, Rima Slim, Majid Fardaei
Recurrent hydatidiform mole (RHM) is defined by the occurrence of repeated molar pregnancies in affected women. Two genes, NLRP7 and KHDC3L, play a causal role in RHM and are responsible for 48-80% and 5% of cases, respectively. Here, we report the results of screening these two genes for mutations in one Iranian and one Indian patient with RHM. No mutations in NLRP7 were identified in the two patients. KHDC3L sequencing identified two novel protein-truncating mutations in a homozygous state, a 4-bp deletion, c...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27599548/ameloblastoma-during-pregnancy-a-case-report
#20
Helbert Eustáquio Cardoso da Silva, Erika do Socorro Ramos Costa, Antônio Carlos Quintão Medeiros, Paulo Sérgio Dos Santos Pereira
BACKGROUND: Ameloblastomas are rarely found in pregnant women, with only two cases reported in the scientific literature. We report the first case of ameloblastoma in a pregnant woman in Brazil. CASE PRESENTATION: A 27-year-old white woman, 12-weeks pregnant, presented with a large mass in her right posterior mandible. Panoramic radiography revealed a lesion involving her mandibular right first molar with displacement of her mandibular right third molar and impairment of the mandibular bone base...
September 6, 2016: Journal of Medical Case Reports
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