She finally had a baby naturally — with a 24-year-old frozen embryo.

When Tina Gibson got married seven years ago, she knew it was unlikely that she would have children naturally. Her husband, 33-year-old Benjamin Gibson, had cystic fibrosis, a condition that can make men infertile, the couple told CNN. The East Tennessee couple decided they would eventually adopt a child instead — and that they would foster several children […]Related:FDA approves first gene therapy for an inherited diseaseThis model lost a leg because of an infection from tampons. Here’s what she wants you to know.Debate erupts within HHS about ‘words to avoid’ such as ‘vulnerable,’ ‘diversity’ and ‘entitlement’
Source: Washington Post: To Your Health - Category: Consumer Health News Source Type: news

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ine W Abstract Infertility is a disease characterized by the failure to establish a clinical pregnancy after 12 months of regular and unprotected sexual intercourse. It is estimated to affect between 8 and 12% of reproductive-aged couples worldwide. Males are found to be solely responsible for 20-30% of infertility cases but contribute to 50% of cases overall. Secondary infertility is the most common form of female infertility around the globe, often due to reproductive tract infections. The three major factors influencing the spontaneous probability of conception are the time of unwanted non-conception, the age...
Source: Clinical Biochemistry - Category: Biochemistry Authors: Tags: Clin Biochem Source Type: research
CONCLUSIONS: We were unable to identify any eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on randomised controlled studies. However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate. PMID: 29274129 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
When Tina Gibson got married seven years ago, she knew it was unlikely that she would have children naturally. Her husband, 33-year-old Benjamin Gibson, had cystic fibrosis, a condition that can make men infertile, the couple told CNN. The East Tennessee couple decided they would eventually adopt a child instead — and that they would foster several children […]Related:FDA approves first gene therapy for an inherited diseaseThis model lost a leg because of an infection from tampons. Here’s what she wants you to know.Debate erupts within HHS about ‘words to avoid’ such as ‘...
Source: Washington Post: To Your Health - Category: Consumer Health News Source Type: news
Publication date: December 2017 Source:European Urology Supplements, Volume 16, Issue 13 Author(s): A. Gokce, D. Gul, F. Halis, H.I. Cimen
Source: European Urology Supplements - Category: Urology & Nephrology Source Type: research
Summary Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Review Article Source Type: research
Publication date: Available online 26 November 2017 Source:Molecular Genetics and Metabolism Author(s): Laura Stocchi, Emiliano Giardina, Luigia Varriale, Annalisa Sechi, Andrea Vagnini, Gianni Parri, Massimo Valentini, Maria Capalbo Tangier disease is an autosomal recessive disorder caused by mutations in the ABCA1 gene and characterized by the accumulation of cholesteryl ester in various tissues and a near absence of high-density lipoprotein. The subject in this investigation was a 36-year-old Italian man with Tangier disease. He and his wife had come to the In Vitro Fertilization Unit, Pesaro Hospital (Azienda Ospedali...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
LITFL • Life in the Fast Lane Medical Blog LITFL • Life in the Fast Lane Medical Blog - Emergency medicine and critical care medical education blog Just when you thought your brain could unwind on a Friday, you realise that it would rather be challenged with some good old fashioned medical trivia FFFF…introducing Funtabulously Frivolous Friday Five 205. Question 1 Meigs’ Syndrome resolves after removal of the tumour. What is the classic triad of Meigs’ Syndrome? + Reveal the Funtabulous Answer expand(document.getElementById('ddet771338363'));expand(document.getElementById('ddetli...
Source: Life in the Fast Lane - Category: Emergency Medicine Authors: Tags: Frivolous Friday Five allergic bronchopulmonary aspergillosis Argyll Robertson aspergilloma aspergillus Calabar extrinsic allergic alveolitis invasive aspergillosis kartagener's syndrome liver Loa loa worms Meigs syndrome ocular oa Source Type: blogs
In this study, we performed whole‐exome sequencing in 18 unrelated CBAVD patients and identified two missense variants in two patients (c.G1709A, p.C570Y; and c.A2968G, p.K990E). Both variants were predicted to be deleterious and highly conserved in silico. The p.C570Y variant is located in the G protein‐coupled receptor (GPCR) proteolysis site domain, which is functionally necessary for autoproteolysis, while the p.K990E variant is in the N‐terminal fragment that may regulate activity of the adhesion GPCR. We did not find any potential pathogenic CFTR variants, implying the ADGRG2 variants are the genetic cause in t...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Original Article Source Type: research
Ethnic differences in cystic fibrosis (CF) genotype and phenotype are increasingly being recognized. It can be challenging to state with confidence the disease liability of rare genetic mutations; however, the development of large international CF databases and genetic registries have provided essential information on the clinical impact of various mutations found in the cystic fibrosis transmembrane conductance regulator (CFTR). Genetic admixture challenges our previous thinking that CF primarily affects the Caucasian population and typically manifests with malabsorption due to pancreatic insufficiency, chronic rhinosinus...
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Editorial Source Type: research
Ethnic differences in cystic fibrosis (CF) genotype and phenotype are increasingly being recognized. It can be challenging to state with confidence the disease liability of rare genetic mutations; however, the development of large international CF databases and genetic registries have provided essential information on the clinical impact of various mutations found in the cystic fibrosis transmembrane conductance regulator (CFTR). Genetic admixture challenges our previous thinking that CF primarily affects the Caucasian population and typically manifests with malabsorption due to pancreatic insufficiency, chronic rhinosinus...
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Editorial Source Type: research
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