Look At Me: Why Genetic Test Results Don't Tell the Full Story

I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome while she was pregnant with me. She is adamant she never would have aborted me. But today, pre-natal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that too many are making irreversible decisions without understanding the disorder. Studies around the world have shown parents abort an average of 76 percent of fetuses found to have TS. Like Down syndrome or autism, Turner is a spectrum disorder with symptoms that range in severity, and a diagnosis is no indication of what an individual's life will be. A girl who has it -- like me -- can be happy, intelligent and highly successful. I wasn't diagnosed until I was 4. I was on the short side of average, but my grandmother was 4 feet 10 inches, so that wasn't completely surprising. There was, and still is, nothing visibly wrong with me. I was a pretty normal child who loved singing tunes from the Little Mermaid. But just search for "Turner syndrome" in Google, and you'll find possible symptoms that would make any pregnant woman pause. Infertility. Webbed neck. Kidney failure. Learning disability. "Skeletal abnormalities." TS is a random mutation caused by complete or partial absence of the second sex chromosome. It occurs in approximately 1 of every 2,000 live female births. "At the basic level, the missing genetic material keeps the female body from maturing naturally,&q...
Source: Science - The Huffington Post - Category: Science Source Type: news

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Authors: Kim SE, Lee SJ, Cha JY, Yi SW, Kim TS, Cho IL, Kwak JY, Oh KH Abstract Colon cancer is very rarely accompanied by tumor thrombosis of the superior mesenteric vein (SMV). A 46-year-old patient had been diagnosed with SMV tumor thrombosis related to colon cancer without hepatic metastasis and underwent right hemicolectomy with SMV tumor thrombectomy. Tumor thrombosis was pathologically confirmed as metastatic colon cancer. There has been no recurrence for 12 months with 12 cycles of adjuvant-chemotherapy. PMID: 30992420 [PubMed - as supplied by publisher]
Source: Clinical Endoscopy - Category: Gastroenterology Tags: Clin Endosc Source Type: research
Publication date: Available online 18 April 2019Source: Pathology - Research and PracticeAuthor(s): Xiao-Jie Chen, Ya-Qin Tan, Na Zhang, Ming-Jing He, Gang ZhouAbstractObjectiveIn recent years, monoclonal antibodies targeting programmed cell death-ligand 1 (PD-L1) have become a promising cancer immunotherapy. However, the role of PD-L1 in oral squamous cell carcinoma (OSCC) and oral potentially malignant disorders (OPMDs), including oral leukoplakia (OLK), remains controversial. The aim of the present study was to investigate the expression level of PD-L1 in OSCC and OPMDs, and examine its relationship with CD8 expression ...
Source: Pathology Research and Practice - Category: Pathology Source Type: research
In conclusion, our findings indicate that targeting miR-142-5p may provide a novel strategy for the treatment of pancreatic cancer.
Source: Pathology Research and Practice - Category: Pathology Source Type: research
Conclusions: Our study demonstrated that TRIP13 might be a tumor promoting factor in ESCC and a promising prognostic indicator for ESCC patient.
Source: Pathology Research and Practice - Category: Pathology Source Type: research
In conclusion, B7-H3 could be a target of bone cancers.
Source: Pathology Research and Practice - Category: Pathology Source Type: research
ConclusionCircRNAs have high sensitivity and specificity in the diagnosis of gastric cancer, and it may become an auxiliary diagnostic biomarker of gastric cancer.
Source: Pathology Research and Practice - Category: Pathology Source Type: research
This study aimed to investigate the role and regulatory mechanism of CypB in NSCLC progression. The expression levels of CypB was detected in NSCLC samples and cell lines by ELISA, western blot and immunohistochemistry assay. In addition, CCK8, colony formation, scratch and transwell assays were used to evaluate the proliferation, migration and invasion of A549 cells with CypB silencing. The expression of angiogenesis related proteins and pathway-related factors were detected by western blot. In NSCLC samples, CypB expression was upregulated. The expression of CypB was significantly reduced in the siRNA-cyclophilin B group...
Source: Pathology Research and Practice - Category: Pathology Source Type: research
Source: Revista Brasileira de Ginecologia e Obstetricia - Category: OBGYN Source Type: research
Conclusion The implementation of a controlled and supervised exercise program in pregnancy was associated with significantly lower odds of induced deliveries.Resumo Objetivo Avaliar o efeito de um programa de exerc ícios na gravidez (baseado nas recomendações do American College of Obstetricians and Gynecologists) na via, duração e início do trabalho de parto. Métodos Estudo realizado no Hospital Senhora da Oliveira entre outubro de 2015 e fevereiro de 2017. Trata-se de um estudo quasi-experimental co m 255 grávidas, divididas em dois grupos: grupo de intervenç...
Source: Revista Brasileira de Ginecologia e Obstetricia - Category: OBGYN Source Type: research
Abstract Objective To promote informed choice for women and to compare home andhospital births in relation to the Apgar score. Methods Mother ’ s profile and Apgar score of naturally born infants (without forceps assistance) in Brazil between 2011 and 2015, in both settings-hospital or home-were collected from live birth records provided by the Informatics Department of the Unified Health System (DATASUS, in the Portuguese acronym). For the analysis, were included only data fromlow-riskdeliveries, including gestational time between 37 and 41weeks, singleton pregnancy, at least four visits of prenatal care, infants we...
Source: Revista Brasileira de Ginecologia e Obstetricia - Category: OBGYN Source Type: research
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