Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

ConclusionIn this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Conclusion DHEA supplementation improved the outcomes of IVF/ICSI in women with DOR or POR. PMID: 31303658 [PubMed]
Source: Geburtshilfe und Frauenheilkunde - Category: OBGYN Tags: Geburtshilfe Frauenheilkd Source Type: research
Conclusion Data available in the current literature revealed that there was no association between RM and inherited thrombophilias in patients with PCOS. RM patients with PCOS have a high risk of thromboembolic events. PMID: 31303657 [PubMed]
Source: Geburtshilfe und Frauenheilkunde - Category: OBGYN Tags: Geburtshilfe Frauenheilkd Source Type: research
This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI -33.55 - 90.40) and 71% died in the first...
Source: Genetics and Molecular Biology - Category: Genetics & Stem Cells Source Type: research
Kisspeptins are a family of neuropeptides that are critical for the puberty initiation and female fertility. Plasma or serum kisspeptin is mainly derived from the placenta during pregnancy and plasma kisspeptin levels significantly increase across pregnancy. Plasma kisspeptin levels could be used as a potential biomarker for the detection of miscarriage, pre-eclampsia, gestational trophoblastic neoplasia (GTN), and fetal development. Kisspeptin may also be involved in the process of parturition by stimulating oxytocin secretion during term pregnancy.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Review article Source Type: research
ConclusionsOur data support that a diagnosis of endometriosis, with or without present endometrioma, does not negatively affect ART cumulative results. The impact of endometriosis was discernible on OSI but not on clinical relevant outcomes including pregnancy and LBR.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
In this study, we showed that NUR77 expression was significantly lower in the villi of the recurrent miscarriage (RM) group compared to that in the healthy controls (HCs) group. We used immunohistochemistry and found that NUR77 was highly expressed in human placental villi during early pregnancy, especially in syncytiotrophoblast (STB), and was expressed at a much lower level in STB from the RM group than in those from HC group. Western blotting data further confirmed that NUR77 was highly expressed in primary human term placental STB and the FSK-induced BeWo cell line. Moreover, antibody array screening and ELISA revealed...
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research
Journal of Computational Biology, Ahead of Print.
Source: Journal of Computational Biology - Category: Biology Authors: Source Type: research
Publication date: Available online 12 July 2019Source: Social Science &MedicineAuthor(s): Aliki Christou, Ashraful Alam, Sayed Murtaza Sadat Hofiani, Mohammad Hafiz Rasooly, Adela Mubasher, Mohammad Khakerah Rashidi, Michael J. Dibley, Camille Raynes-GreenowAbstractQuality concerns exist with stillbirth data from low- and middle-income countries including under-reporting and misclassification which affect the reliability of burden estimates. This is particularly problematic for household survey data. Disclosure and reporting of stillbirths are affected by the socio-cultural context in which they occur and societal perc...
Source: Social Science and Medicine - Category: Psychiatry & Psychology Source Type: research
ConclusionThis is the first study specifically examining the teratogenic risk of fosfomycin. The study results do not indicate an increased risk of adverse pregnancy outcome after fosfomycin exposure during early pregnancy. However, larger studies are needed to confirm the safety of fosfomycin during the first trimester.
Source: Infection - Category: Infectious Diseases Source Type: research
Conditions:   Recurrent Miscarriage;   Spontaneous Abortion;   Mannose-Binding Lectin Deficiency;   Habitual Abortion;   Pregnancy Complications;   Pregnancy Loss;   Recurrent Pregnancy Loss Intervention:   Other: Investigate the association of MBL plasma levels with RPL and perinatal outcome before and after RPL. Sponsor:   Caroline Nørgaard-Pedersen Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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