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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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38 hot topic(s) found with the query "Infertility"

A genomics approach to male infertility
N Alhathal et al, Genetics in Medicine, July 28, 2020 (Posted: Jul-28-2020 10AM)

Patients with severe oligospermia and nonobstructive azoospermia were investigated using exome sequencing (ES) in parallel with the standard practice of chromosomal analysis. In 285 patients, 10.5% (n?=?30) had evidence of chromosomal aberrations while nearly a quarter (n?=?69; 24.2%) had a potential monogenic form of male infertility.


Counseling young women with early breast cancer on fertility preservation.
Ter Welle-Butalid M E Elena et al. Journal of assisted reproduction and genetics 2019 Nov (Posted: Nov-25-2019 8AM)

Women with early stage of breast cancer and a possible future child wish should be referred to an expertise center in breast cancer, fertility preservation, and genetics. Women who have a genetic predisposition for breast cancer like BRCA mutation should be informed about the possibility of pre-implantation genetic diagnosis.


Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality
R Dawes et al, NPJ Genomic Medicine, April 15, 2019 (Posted: Apr-29-2019 11AM)


A systematic review and standardized clinical validity assessment of male infertility genes
MS Oud et al, BioRXIV, September 2018 (Posted: Sep-25-2018 9AM)


Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy?
Kimelman Dana et al. Journal of assisted reproduction and genetics 2018 Aug (Posted: Aug-22-2018 11AM)


Infertility FAQs
CDC, 2018 Brand (Posted: Apr-24-2018 11AM)


Testing for genetic contributions to infertility: potential clinical impact.
Krausz C et al. Expert review of molecular diagnostics 2018 Mar (Posted: Mar-21-2018 4PM)


From sperm to offspring: Assessing the heritable genetic consequences of paternal smoking and potential public health impacts.
Beal Marc A et al. Mutation research 2017 Jul 26-50 (Posted: Nov-15-2017 8AM)


Initiative for standardization of reporting genetics of male infertility.
Traven Eva et al. Systems biology in reproductive medicine 2017 Feb (1) 58-66 (Posted: Jun-06-2017 8AM)


Multi-omics and male infertility: status, integration and future prospects.
Sinha Ashima et al. Frontiers in bioscience (Scholar edition) 2017 Jun 375-394 (Posted: Jun-06-2017 8AM)


Genomics: Tool to predict and prevent male infertility.
Halder Ashutosh et al. Frontiers in bioscience (Scholar edition) 2017 Jun 448-508 (Posted: Jun-06-2017 8AM)


Recent insights on the genetics and epigenetics of endometriosis.
Borghese B et al. Clinical genetics 2017 Feb (2) 254-264 (Posted: May-10-2017 7PM)


Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics.
Hart Roger J et al. Physiological reviews 2016 Jul (3) 873-909 (Posted: Aug-21-2016 2PM)


Genetics of Male Infertility.
Neto Filipe Tenorio Lira et al. Current urology reports 2016 Oct (10) 70 (Posted: Aug-21-2016 2PM)


The First Tinkering with Human Heredity May Happen in the Infertility Clinic
SS Hall, Scientific American, September 2016 (Posted: Aug-21-2016 2PM)


Pros and cons of implementing a carrier genetic test in an infertility practice.
Gil-Arribas Elisa et al. Current opinion in obstetrics & gynecology 2016 Apr (Posted: Apr-13-2016 11AM)


Genetics of male infertility: from research to clinic.
Krausz Csilla et al. Reproduction (Cambridge, England) 2015 Nov (5) R159-74 (Posted: Mar-03-2016 0PM)


Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health.
Stuppia Liborio et al. Clinical epigenetics 2015 120 (Posted: Mar-03-2016 0PM)


The "omics" of human male infertility: integrating big data in a systems biology approach.
Carrell D T et al. Cell and tissue research 2016 Jan (1) 295-312 (Posted: Mar-03-2016 11AM)


Expanded carrier screening in an infertile population: how often is clinical decision making affected?
JM Franasiak et al, Genetics in Medicine, March 3, 2016 (Posted: Mar-03-2016 11AM)


Polymorphisms in inhibin a gene promoter associated with male infertility.
Li Wan-Hong et al. Gene 2015 Apr 1. (2) 172-6 (Posted: Apr-19-2015 2PM)


Counseling and diagnostic evaluation for the infertile couple.
Marshburn Paul B et al. Obstet. Gynecol. Clin. North Am. 2015 Mar (1) 1-14 (Posted: Apr-19-2015 2PM)


Excess of Rare Variants in Genes that are Key Epigenetic Regulators of Spermatogenesis in the Patients with Non-Obstructive Azoospermia.
Li Zesong et al. Sci Rep 2015 8785 (Posted: Apr-19-2015 2PM)


Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss.
Murugappan Gayathree et al. Fertil. Steril. 2015 Mar 12. (Posted: Apr-19-2015 2PM)


Susceptibility to male infertility: replication study in Japanese men looking for an association with four GWAS-derived loci identified in European men.
Chihara Makoto et al. J. Assist. Reprod. Genet. 2015 Apr 7. (Posted: Apr-19-2015 2PM)


Mutation analysis in patients with total sperm immotility.
Pereira Rute et al. J. Assist. Reprod. Genet. 2015 Apr 16. (Posted: Apr-19-2015 2PM)


Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.
Tarín Juan J et al. Reprod. Biol. Endocrinol. 2015 Apr 15. (1) 31 (Posted: Apr-19-2015 2PM)


Counseling and diagnostic evaluation for the infertile couple.
Marshburn Paul B et al. Obstet. Gynecol. Clin. North Am. 2015 Mar (1) 1-14 (Posted: Apr-05-2015 4PM)


Current attitudes of parents and patients toward hematopoietic stem cell transplantation for sickle cell anemia.
Meier Emily Riehm et al. Pediatr Blood Cancer 2015 Mar 23. (Posted: Apr-01-2015 1PM)


Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.
Harper Joyce et al. Hum. Reprod. 2014 Aug (8) 1603-9 (Posted: Mar-24-2015 1PM)


Folic acid supplementation and methylenetetrahydrofolate reductase (MTHFR) gene variations in relation to in vitro fertilization pregnancy outcome.
Murto Tiina et al. Acta Obstet Gynecol Scand 2015 Jan (1) 65-71 (Posted: Mar-24-2015 1PM)


Assisted reproductive technology: an overview of Cochrane reviews.
Farquhar Cindy et al. Cochrane Database Syst Rev 2014 CD010537 (Posted: Mar-24-2015 1PM)


Infertility frequently asked questions
Brand (Posted: Feb-25-2015 0PM)


Neonatal outcome after preimplantation genetic diagnosis.
Eldar-Geva Talia et al. Fertil. Steril. 2014 Oct (4) 1016-21 (Posted: Feb-23-2015 10AM)


Cystic Fibrosis
From NHLBI health topic site Brand (Posted: Jan-01-2014 0AM)

What Is Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. "Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease?one from each parent. The parents likely don't have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Overview Mucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. If you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.) The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs. The thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine. These enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort. CF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death. If you or your child has CF, you're also at higher risk for diabetes or two bone-thinning conditions called osteoporosis (OS-te-o-po-RO-sis) and osteopenia (OS-te-o-PEE-nee-uh). CF also causes infertility in men, and the disease can make it harder for women to get pregnant. (The term "infertility" refers to the inability to have children.) Outlook The symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years. The symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often. Lung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF. As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer. Early treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments. Your doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems. Other Names ?Cystic fibrosis of the pancreas ?Fibrocystic disease of the pancreas ?Mucoviscidosis (MU-ko-vis-ih-DO-sis) ?Mucoviscidosis of the pancreas ?Pancreas fibrocystic disease ?Pancreatic cystic fibrosis


Male infertility with spermatogenesis disorder due to single gene mutation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Deafness-infertility syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Y chromosome infertility
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)



Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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