Structural Anomalies of Rb and Br Ionic Nanosolutions in Hydrophobic Slit-Shaped Solid Space as Revealed by the EXAFS Technique

2003 ◽  
Vol 107 (49) ◽  
pp. 13616-13622 ◽  
Author(s):  
Takahiro Ohkubo ◽  
Yoshiyuki Hattori ◽  
Hirofumi Kanoh ◽  
Takehisa Konishi ◽  
Takashi Fujikawa ◽  
...  
Keyword(s):  
Solid Space ◽  
Structural Anomalies

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies. Report on a Brazilian family

2010 ◽  
pp. 100611121139056
Author(s):  
Dionísia Lamônica ◽  
Luciana Maximino ◽  
Mariza Feniman ◽  
Greyce Silva ◽  
Sthella Zanchetta ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Middle Ear ◽  
Structural Anomalies

Postpartum Depression Risk following Prenatal Diagnosis of Major Fetal Structural Anomalies

2021 ◽  
Author(s):  
Christina L. Herrera ◽  
John J. Byrne ◽  
David B. Nelson ◽  
Rachel C. Schell ◽  
Jodi S. Dashe
Keyword(s):  
Mental Health ◽  
Prenatal Diagnosis ◽  
Postpartum Depression ◽  
Depressive Disorder ◽  
Structural Anomaly ◽  
Depression Risk ◽  
Organ Systems ◽  
Increased Risk ◽  
Structural Anomalies

Objectives Our primary objective was to evaluate how prenatal diagnosis of a major fetal structural anomaly and resulting pregnancy outcome affected postpartum depression risk, as assessed by the Edinburgh Postnatal Depression Scale (EPDS). Secondary objectives were to review the rate of mental health follow-up and subsequent diagnosis of postpartum depression in screen-positive women. Study Design Singleton pregnancies with prenatal diagnosis of one or more major fetal structural anomalies were ascertained from prospectively maintained databases that included perinatal outcomes and subsequent EPDS responses from January 2010 to May 2018. EPDS scores of 13 or higher were considered positive and prompted referral for mental health follow-up, which was verified by medical record review. Statistical analyses were performed using Student's t-test, χ2, and odds ratios (ORs) with p < 0.05 considered significant. Results A total of 1,306 women had a prenatal diagnosis of one or more major fetal structural anomalies, 896 (68%) also had a postpartum EPDS screening, and 82 (9.2%) screened positive. Positive EPDS screening was more common with anomalies of multiple organ systems (16.5 vs 7.8%, p = 0.002) and aneuploidy (17.1 vs 9.3%, p = 0.02). Pregnancies complicated by fetal death, neonatal death, and termination for anomaly were significantly more likely to screen positive than those with neonatal survival to discharge (OR, 3.1 [95% confidence interval [CI], 1.6–6.2], 3.0 [95% CI, 1.5–5.8], and 4.4 [95% CI, 2.1–8.9], respectively, p ≤ 0.002). Of the 35 (43%) screen-positive women who attended follow-up appointments with mental health providers, 18 (51%) were diagnosed with a depressive disorder, accounting overall for 22% of those with a positive EPDS screen. Conclusion Among women with a prenatal diagnosis of a major fetal structural anomaly, those experiencing a perinatal loss or pregnancy termination have an increased risk of positive EPDS screen result compared with who have a neonate surviving to discharge. A depressive disorder was diagnosed postpartum in 22% of these women with a positive EPDS screen. Our findings highlight the mental health needs in this vulnerable population. Key Points

scholarly journals Structural anomalies of the peripheral olfactory system in psychosis high-risk subjects

2018 ◽  
Vol 195 ◽  
pp. 197-205 ◽  
Author(s):  
Bruce I. Turetsky ◽  
Paul J. Moberg ◽  
Megan Quarmley ◽  
Erich Dress ◽  
Monica E. Calkins ◽  
...  
Keyword(s):  
High Risk ◽  
Olfactory System ◽  
Peripheral Olfactory System ◽  
Structural Anomalies

scholarly journals Next-Generation Sequencing Gene Panels and “Solo” Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses

2021 ◽  
pp. 1-11
Author(s):  
Montse Pauta ◽  
Berta Campos ◽  
Maria Segura-Puimedon ◽  
Gemma Arca ◽  
Alfons Nadal ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Monogenic Disease ◽  
Chromosomal Microarray Analysis ◽  
Next Generation ◽  
Clinical Exome Sequencing ◽  
Gene Panels ◽  
Generation Sequencing ◽  
Structural Anomalies

<b><i>Objective:</i></b> The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and “solo” clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. <b><i>Methodology:</i></b> Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. <b><i>Results:</i></b> During the study period (2015–2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. <b><i>Conclusions:</i></b> A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.

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