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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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82 hot topic(s) found with the query "Birth defects"

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Monica H Wojcik et al. Am J Hum Genet 2023 8 (8) 1229-1248 (Posted: Aug 15, 2023 2PM)

Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending after ES. The current diagnostic rate reflects multiple factors, including technical limitations, incomplete understanding of variant pathogenicity, missing genotype-phenotype associations, complex gene-environment interactions, and reporting differences between clinical labs.

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities
KA Drexler et al, Genet in Med June 13, 2023 (Posted: Jun 13, 2023 9AM)

Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.
Kaitlynn P Craig et al. J Community Genet 2023 4 1-9 (Posted: Apr 19, 2023 7AM)

Birth Defects Research and Tracking
CDC, March 2023 Brand (Posted: Mar 01, 2023 1PM)

Accurately tracking birth defects and analyzing the collected data is a first step in preventing birth defects. CDC uses tracking and research to identify causes of birth defects, find opportunities to prevent them, and improve the health of those living with birth defects. Understanding the potential causes of birth defects can lead to recommendations, policies, and services to help prevent them.

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
M Pennings et al, EJHG, February 13, 2023 (Posted: Feb 14, 2023 7AM)

In this study, CNVs were extracted from clinical exome sequencing reports of 4800 probands primarily with a movement disorder, myopathy or neuropathy. In 88 (~2%) probands, phenotype-matching CNVs were detected, representing ~7% of genetically confirmed cases. CNVs varied from involvement of over 100 genes to single exons and explained X-linked, autosomal dominant, or - recessive disorders, the latter due to either a homozygous CNV or a compound heterozygous CNV with a sequence variant on the other allele.

National Birth Defects Awareness Month: Healthy Communities, Healthy Babies
NBDPN, January 2023 (Posted: Dec 29, 2022 11AM)

As part of our new awareness efforts, NBDPN would like to recognize that systemic barriers can create gaps in access to the recommended care in our prevention tips. So, we aim to reinforce these prevention tips by sparking more actions and conversations in your local communities to identify, or build, more resources for successful pregnancies! Importantly, we would like to clarify that this theme is focused on the preparation stages of your journey into parenthood. Many of these conditions extend across the lifespan.

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
RB Deloge et al, EJHG, December 6, 2022 (Posted: Dec 06, 2022 0PM)

Evidence suggests that genetic factors contribute to the development of anorectal malformations (ARMs). However, the etiology of the majority of ARMs cases remains unclear. Exome sequencing (ES) may be underutilized in the diagnostic workup of ARMs due to uncertainty regarding its diagnostic yield. In a clinical database of ~17,000 individuals referred for ES, we identified 130 individuals with syndromic ARMs. A definitive or probable diagnosis was made in 45 of these individuals for a diagnostic yield of 34.6% (45/130).

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10 (Posted: Nov 04, 2022 1PM)

Cerebellar hypoplasia and atrophy (CBHA) is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects. Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated. Disease-causing variants were identified in 96 of the 176 families (54.5%). The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments.

Find a Genetic Clinic
ACMG, 2022 (Posted: Jul 10, 2022 7AM)

ACMG's "Find a Genetics Clinic" allow individuals to search for genetics clinics across the United States. The directory contains the locations of genetics clinics that have requested to be listed. Select one or more Specialty Area(s) Adult Genetics Cancer Genetics (includes cancer risk assessment, screening or prevention; hereditary/familial cancer) Cardiovascular Genetics General Genetics (includes Medical Genetics and Birth Defects) Genetic Counseling Metabolic Neurogenetics Pediatric Genetics Prenatal Genetics (includes prenatal diagnosis, antenatal testing and perinatal genetics) Reproductive Genetics (includes preconception genetic services)

Using Pharmacogenomics to Better Understand the Role of Selected Medications and Birth Defect Risk
M Jenkins et al, CDC Blog Post, April 12, 2022 Brand (Posted: Apr 12, 2022 2PM)

The NBDPS allows researchers to investigate gene-medication associations because it collected information on the timing, duration, and frequency of medication use, and has a diverse racial and ethnic study population, representative of the population of the United States. Analyzing GWAS data from this unique dataset could lead to improvements in health equity for medication safety for pregnant women. These analyses are expected to advance precision medicine by identifying individuals with higher genetic risk for birth defects via polygenic risk scores, as well as identifying medication targets.

Precision Public Health in Action: New CDC Pilot Projects Integrating Human Genomics into Public Health Surveillance and Applied Research
M Clyne et al, CDC Blog Post, February 14, 2022 Brand (Posted: Feb 15, 2022 7AM)

Six CDC projects were selected for funding in 2022 and 2023. They cover a wide range of topics, including: Assessing the impact of genetics in the control of two infectious diseases (Tuberculosis and Ebola), enhancing the reporting of gene/genome sequencing in newborn screening programs, examining the role of medications and genetics in the National Birth Defects Prevention Study (NBDPS), establishing population-based, ethnicity-specific allele frequencies for pharmacogenomic traits of public health importance using the National Health and Nutrition Examination Survey (NHANES), and enhancing the evaluation of genetic risk prediction models for inhibitor development among people with hemophilia in different populations.

Children with genetic conditions in the United States: Prevalence estimates from the 2016-2017 National Survey of Children's Health.
Lichstein Jesse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 12 (Posted: Jan 09, 2022 11AM)

In 2016-2017, the prevalence of children aged 0 to 17 years with a reported genetic condition was approximately 0.039, roughly equating to 2.8 million children. A greater percentage of children with genetic conditions had a physical (50.9% vs 24.8%), mental (27.9% vs 5.8%), or behavioral/developmental/intellectual condition (55.6% vs 14.4%) than children without a genetic condition. Furthermore, they used more care and had more unmet health needs (7.6% vs 2.9%).

Awareness of Birth Defects Across the Lifespan
CDC, January 3, 2022 Brand (Posted: Jan 06, 2022 8AM)

Awareness of birth defects across the lifespan helps provide individuals, parents, and families affected by birth defects the information they need to seek proper care. It also gives healthcare professionals the evidence they need to deliver the best care for patients across all stages of life: before and during pregnancy, and in infancy, childhood, adolescence, and adulthood.

Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021 (Posted: Nov 28, 2021 10AM)

We close the year with a range of interesting and informative papers. Birth defects (congenital anomalies) affect many thousands of neonates every year; yet the aetiology of many of them remains unresolved. A new paper reviews what is known about the genomic basis of congenital diaphragmatic hernia (CDH). Around 10% of cases of CDH are associated with a copy number variant. Implicated pathways include NRF2 and vitamin A homeostasis. In contrast to common malformations, the genetic basis of rare disease continues to be elucidated with more and more causal genes identified annually

Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021 10 (Posted: Oct 09, 2021 8AM)

Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarizes the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.

Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
J Gunter, the Vajenda, March 27, 2021 (Posted: Mar 29, 2021 6AM)

Many people have erroneously linked MTHFR polymorphisms with a myriad of medical conditions. In the world of reproductive medicine, it is blamed for a host of things, such as infertility, miscarriages, stillbirths, failure of in vitro fertilization (IVF), preecplampsia (a serious medical condition during pregnancy), and having a child with autism, Down syndrome, birth defects that impact the heart (congenital heart disease), and neural tube defects.

World Birth Defects Day, March 3, 2021
CDC, March 2021 Brand (Posted: Mar 01, 2021 3PM)

March 3 is World Birth Defects Day. Join us to raise awareness of birth defects, their causes, and their impact around the world! Our theme is “Many birth defects, one voice.” Every year, about 3-6% of infants worldwide are born with a serious birth defect. This means that life-altering conditions like spina bifida and congenital heart defects affect millions of babies regardless of where they are born, their socioeconomic status, or their race or ethnicity.

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang Haiyan et al. BMC medical genomics 2021 3 (1) 61 (Posted: Mar 01, 2021 8AM)

Congenital hearing loss is one of the most common birth defects. Early identification plays a crucial role in improving patients’ communication and language acquisition. Previous studies demonstrated that genetic screening complements newborn hearing screening in clinical settings. We developed a multiplex PCR amplicon sequencing assay to sequence the coding region of the GJB2 gene, the most pathogenic variants of the SLC26A4 gene, and hotspot variants in the MT-RNR1 gene.

Birth Defects Surveillance Readiness Assessment Tool
Public Health Informatics Institute, February 2021 (Posted: Feb 03, 2021 9AM)

The National Center on Birth Defects and Developmental Disabilities (NCBDDD) at the Centers for Disease Control and Prevention (CDC) has partnered with the Public Health Informatics Institute to develop Interoperability for Birth Defect Surveillance: A Readiness Assessment Tool to increase state birth defects program capability to exchange electronic health information with clinical EHRs.

Birth Defects Surveillance Toolkit
CDC, January 2021 Brand (Posted: Jan 08, 2021 10AM)

The Birth Defects Surveillance Toolkit serves as a resource for those looking to establish or enhance a surveillance programme for birth defects. It provides an overview of the purpose and importance of these types of programmes, and serves as a companion for planning, implementing, and evaluating a program.

National Birth Defects Prevention Month Digital Toolkit
CDC, January 2021 (Posted: Dec 29, 2020 8AM)

January is National Birth Defects Prevention Month. Join the nationwide effort to raise awareness of birth defects and their impact on families! Join CDC in sharing information on ways to plan for a healthy pregnancy and prevent birth defects with your patients, family, friends, and followers.

Unlocking the genetic complexity of congenital hydrocephalus
ME Ross, Nature Medicine, October 26, 2020 (Posted: Oct 27, 2020 8AM)

Genome sequencing of patients with sporadic congenital hydrocephalus reveals mutations of large effect size indicative of a developmental origin for the disease.

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations
NJ Flowers et al, Genetics in Medicine, August 18, 2020 (Posted: Aug 18, 2020 8AM)

Balanced reciprocal translocation carriers are at increased risk of producing gametes with unbalanced forms leading to miscarriage, fetal anomalies, and birth defects. This study assesses whether genome-wide cell-free DNA based noninvasive prenatal screening could provide an alternative to prenatal diagnosis for carriers of these chromosomal rearrangements.

Genetics and pediatric hospital admissions, 1985 to 2017
S Giorgoski et al, Genetics in Medicine, June 22, 2020 (Posted: Jun 23, 2020 8AM)

Two weeks of hospital admissions were classified according to a pre-existing categorization, based on genetic etiology, encompassing chromosomal and monogenic conditions, multifactorial (MF) conditions, and no known genetic cause. We found that conditions with a genetic contribution account for over half of pediatric inpatients.

The de-coders: A historical perspective of the genetic counseling profession.
Cohen Leslie et al. Birth defects research 2020 Mar 112(4) 307-315 (Posted: Mar 04, 2020 9AM)

Neurodevelopmental Abnormalities Associated With In Utero Zika Virus Infection in Infants and Children-The Unfolding Story.
Honein Margaret A et al. JAMA pediatrics 2020 Jan (Posted: Jan 09, 2020 8AM)

It remains unknown whether the 90% to 95% of infants potentially congenitally exposed but without Zika virus–associated birth defects have a higher-than-baseline risk of neurodevelopmental abnormalities and, if so, how these disabilities may manifest over time.

Folic Acid Information
CDC, January 2020 Brand (Posted: Jan 05, 2020 11AM)

Folic acid is a B vitamin. If a woman has enough folic acid in her body before and during pregnancy, it can help prevent major birth defects of the baby’s brain and spine. Women need 400 micrograms (mcg) of folic acid every day.

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
S Middelkamp et al, Genome Medicine, December 4, 2019 (Posted: Dec 06, 2019 8AM)

Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct (Posted: Oct 31, 2019 0PM)

While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have been relatively few GWAS of these conditions. We reviewed the current landscape of GWAS conducted for birth defects, noting novel insights, and future directions.

Zika Birth Defects Surveillance
CDC, 2019 Brand (Posted: Jun 19, 2019 8AM)

Gene variations linked to severity of Zika-related birth defects, small NIH study suggests
NIH, September 17, 2018 Brand (Posted: Sep 17, 2018 9AM)

Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing.
et al. American journal of medical genetics. Part A 2018 Jun (6) 1280-1282 (Posted: Jun 10, 2018 11AM)

World Birth Defects Day, March 3, 2018
Brand (Posted: Feb 27, 2018 1PM)

March 3 is World Birth Defects Day!
A volunteer-based organization whose aim is to contribute to increase the awareness on birth defects surveillance, prevention (Posted: Feb 26, 2018 9AM)

Birth Defects Potentially Related to Zika Virus Infection During Pregnancy in the United States
B Fitzgerald et al, JAMA, Jan 25, 2018 (Posted: Jan 26, 2018 9AM)

Prevent Birth Defects
Brand (Posted: Jan 02, 2018 11AM)

Strategic Plan 2017-2022
National Center on Birth Defects and Developmental Disabilities, 2017 Brand (Posted: Jun 28, 2017 1PM)

Why we don’t know what causes most birth defects
The Conversation, June 2017 (Posted: Jun 11, 2017 1PM)

CDC analysis of data from US territories finds serious birth defects in about 1 in 12 fetuses or infants of pregnant women with Zika infection in the first trimester
CDC, June 7, 2017 Brand (Posted: Jun 09, 2017 8AM)

Key Findings: Frequency of Trisomy Conditions using Birth Defects Tracking Programs in the United States, 2006-2010
Brand (Posted: Mar 09, 2017 2PM)

CDC study estimates 20-fold increase in certain types of birth defects in pregnancies with possible Zika infection compared with pre-Zika years
Brand (Posted: Mar 03, 2017 8AM)

Plan Ahead: Folic Acid Can Help Prevent Certain Birth Defects
(Posted: Jan 12, 2017 3PM)

A Family’s Shared Defect Sheds Light on the Human Genome
N Angier, New York Times, January 9, 2017 (Posted: Jan 09, 2017 8PM)

Severe birth defects not as lethal as docs once said: Study
US News, July 26, 2016 (Posted: Jul 28, 2016 7PM)

Gene-Environment Interactions and the Etiology of Birth Defects.
Krauss Robert S et al. Current topics in developmental biology 2016 569-80 (Posted: Mar 26, 2016 5PM)

CDC Concludes Zika Causes Microcephaly and Other Birth Defects
Brand (Posted: Mar 10, 2016 0AM)

Zika Virus and Birth Defects — Reviewing the Evidence for Causality
SA Rasmussen et al. NEJM, April 13, 2016 (Posted: Mar 10, 2016 0AM)

March 3 is World Birth Defects Day!
Brand (Posted: Mar 02, 2016 4PM)

Announcement: World Birth Defects Day — March 3, 2016
MMWR, February 26, 2016 Brand (Posted: Feb 25, 2016 1PM)

What causes birth defects?
CDC VIDEO (Posted: Feb 17, 2016 0PM)

Healthy Pregnancy: Living My PACT
Brand (Posted: Jan 27, 2016 11AM)

World Birth Defects Day, March 3, 2016
International Clearinghouse for Birth Defects (Posted: Jan 14, 2016 8AM)

National Birth Defects Prevention Month
Brand (Posted: Jan 12, 2016 3PM)

Birth Defects Prevention Month 2016
National Birth Defects Prevention Network, January 2016 (Posted: Jan 12, 2016 3PM)

Plan Ahead: Folic Acid Can Help Prevent Certain Birth Defects
Brand (Posted: Jan 11, 2016 1PM)

Real Stories from Real Families Living with Birth Defects
Brand (Posted: Jan 06, 2016 5PM)

Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.
Mazumdar Maitreyi et al. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep (9) 754-62 (Posted: Oct 05, 2015 9AM)

Findings from the National Birth Defects Prevention Study: Interpretation and translation for the clinician.
Alwan Sura et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jun 25. (Posted: Jul 01, 2015 2PM)

DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects.
Shangguan Shaofang et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jan (1) 37-44 (Posted: May 01, 2015 0PM)

Folic acid supplementation in pregnancy and implications in health and disease.
Barua Subit et al. J. Biomed. Sci. 2014 77 (Posted: Apr 27, 2015 6PM)

Considering Maternal Dietary Modulators for Epigenetic Regulation and Programming of the Fetal Epigenome.
Chango Abalo et al. Nutrients 2015 (4) 2748-2770 (Posted: Apr 27, 2015 6PM)

Primary prevention of congenital anomalies: recommendable, feasible and achievable.
Taruscio Domenica et al. Public Health Genomics 2015 (3) 184-91 (Posted: Apr 27, 2015 6PM)

WHO Guideline: Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects
April 2015 (Posted: Apr 27, 2015 6PM)

Effect of consanguinity on birth defects in Saudi women: Results from a nested case-control study.
Majeed-Saidan Muhammad Ali et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Feb (2) 100-4 (Posted: Mar 06, 2015 5PM)

HHS.gov blog on World Birth Defects Day
(Posted: Mar 03, 2015 10AM)

Gene-Gene Interaction Among WNT Genes for Oral Cleft in Trios.
Li Qing et al. Genet. Epidemiol. 2015 Feb 6. (Posted: Feb 27, 2015 11AM)

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner Joseph T et al. Circ. Res. 2014 Oct 24. (10) 884-96 (Posted: Feb 27, 2015 11AM)

Maternal obesity and tobacco use modify the impact of genetic variants on the occurrence of conotruncal heart defects.
Tang Xinyu et al. PLoS ONE 2014 (9) e108903 (Posted: Feb 27, 2015 11AM)

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects.
Rochtus Anne et al. Epigenetics 2015 Jan 7. 1-10 (Posted: Feb 27, 2015 11AM)

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.
Wijers Charlotte H W et al. Birth Defects Res. C Embryo Today 2014 Dec (4) 382-400 (Posted: Feb 27, 2015 11AM)

Association between maternal single nucleotide polymorphisms in genes regulating glucose metabolism and risk for neural tube defects in offspring.
Fu Yunting et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2014 Nov 5. (Posted: Feb 27, 2015 11AM)

Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
Geller Frank et al. Nat. Genet. 2014 Sep (9) 957-63 (Posted: Feb 27, 2015 11AM)

International Clearinghouse for Birth Defects Surveillance and Research
(Posted: Feb 27, 2015 11AM)

CDC information: Did You Know? on World Birth Defects Day
Brand (Posted: Feb 25, 2015 0PM)

Announcement: World Birth Defects Day ? March 3, 2015
MMWR February 27, 2015 / 64(07);196-196 Brand (Posted: Feb 25, 2015 0PM)

CDC information: CDC.gov Feature introduces the inaugural World Birth Defects Day: March 3, 2015
Brand (Posted: Feb 25, 2015 0PM)

CDC information: Center for Global Health's Global Voices blog, "March 3 Marks the First Annual World Birth Defects Day"
Brand (Posted: Feb 25, 2015 0PM)

CDC Information: Optimal Blood Folate Concentrations for the Prevention of Neural Tube Defects
WHO Guideline at-a-glance Brand (Posted: Feb 25, 2015 0PM)

Opioid pain medications used early in pregnancy might increase risk of some birth defects
Brand (Posted: Feb 25, 2015 0PM)

Zika Virus
Brand (Posted: Jan 11, 2014 11AM)

Discovered in the Zika forest, Uganda, in 1947, Zika virus is a member of the flavivirus family. Other flaviviruses include those that cause dengue, yellow fever, and West Nile fever. Like its relatives, Zika virus is primarily transmitted to humans through the bite of infected Aedes aegypti mosquitoes. Zika virus can be transmitted from an infected pregnant woman to her baby during pregnancy and can result in serious birth defects, including microcephaly. Less commonly, the virus can be spread through intercourse or blood transfusion.

Fanconi Anemia
From NHLBI health topic site Brand (Posted: Jan 11, 2014 11AM)

What Is Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi?s anemia. FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer). Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems. FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children. Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems. Bone Marrow and Blood Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs: ?Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. ?White blood cells, which help fight infections. ?Platelets (PLATE-lets), which help your blood clot. It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells. If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur. Fanconi Anemia and Your Body FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells. FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems. With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood can?t clot normally. As a result, you may have bleeding problems. Outlook People who have FA have a greater risk than other people for some cancers. About 10 percent of people who have FA develop leukemia. People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors. The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.) Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs. FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors. Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.

Heart Valve Disease
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral, and aortic valves. These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body. Healthy Heart Cross-Section Figure 1 shows the location of the heart in the body. Figure B shows a cross-section of a healthy heart and its inside structures. The blue arrow shows the direction in which oxygen-poor blood flows through the heart to the lungs. The red arrow shows the direction in which oxygen-rich blood flows from the lungs into the heart and then out to the body. Figure 1 shows the location of the heart in the body. Figure B shows a cross-section of a healthy heart and its inside structures. The blue arrow shows the direction in which oxygen-poor blood flows through the heart to the lungs. The red arrow shows the direction in which oxygen-rich blood flows from the lungs into the heart and then out to the body. Birth defects, age-related changes, infections, or other conditions can cause one or more of your heart valves to not open fully or to let blood leak back into the heart chambers. This can make your heart work harder and affect its ability to pump blood. Overview How the Heart Valves Work At the start of each heartbeat, blood returning from the body and lungs fills the atria (the heart's two upper chambers). The mitral and tricuspid valves are located at the bottom of these chambers. As the blood builds up in the atria, these valves open to allow blood to flow into the ventricles (the heart's two lower chambers). After a brief delay, as the ventricles begin to contract, the mitral and tricuspid valves shut tightly. This prevents blood from flowing back into the atria. As the ventricles contract, they pump blood through the pulmonary and aortic valves. The pulmonary valve opens to allow blood to flow from the right ventricle into the pulmonary artery. This artery carries blood to the lungs to get oxygen. At the same time, the aortic valve opens to allow blood to flow from the left ventricle into the aorta. The aorta carries oxygen-rich blood to the body. As the ventricles relax, the pulmonary and aortic valves shut tightly. This prevents blood from flowing back into the ventricles. For more information about how the heart pumps blood and detailed animations, go to the Health Topics How the Heart Works article. Heart Valve Problems Heart valves can have three basic kinds of problems: regurgitation, stenosis, and atresia. Regurgitation, or backflow, occurs if a valve doesn't close tightly. Blood leaks back into the chambers rather than flowing forward through the heart or into an artery. In the United States, backflow most often is due to prolapse. "Prolapse" is when the flaps of the valve flop or bulge back into an upper heart chamber during a heartbeat. Prolapse mainly affects the mitral valve. Stenosis occurs if the flaps of a valve thicken, stiffen, or fuse together. This prevents the heart valve from fully opening. As a result, not enough blood flows through the valve. Some valves can have both stenosis and backflow problems. Atresia occurs if a heart valve lacks an opening for blood to pass through. Some people are born with heart valve disease, while others acquire it later in life. Heart valve disease that develops before birth is called congenital heart valve disease. Congenital heart valve disease can occur alone or with other congenital heart defects. Congenital heart valve disease often involves pulmonary or aortic valves that don't form properly. These valves may not have enough tissue flaps, they may be the wrong size or shape, or they may lack an opening through which blood can flow properly. Acquired heart valve disease usually involves aortic or mitral valves. Although the valves are normal at first, problems develop over time. Both congenital and acquired heart valve disease can cause stenosis or backflow. Outlook Many people have heart valve defects or disease but don't have symptoms. For some people, the condition mostly stays the same throughout their lives and doesn't cause any problems. For other people, heart valve disease slowly worsens until symptoms develop. If not treated, advanced heart valve disease can cause heart failure, stroke, blood clots, or death due to sudden cardiac arrest (SCA). Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines can relieve many of its symptoms and complications. These treatments also can lower your risk of developing a life-threatening condition, such as stroke or SCA. Eventually, you may need to have your faulty heart valve repaired or replaced. Some types of congenital heart valve disease are so severe that the valve is repaired or replaced during infancy, childhood, or even before birth. Other types may not cause problems until middle-age or older, if at all. Other Names ?Aortic regurgitation ?Aortic stenosis ?Aortic sclerosis ?Aortic valve disease ?Bicuspid aortic valve ?Congenital heart defect ?Congenital valve disease ?Mitral regurgitation ?Mitral stenosis ?Mitral valve disease ?Mitral valve prolapse ?Pulmonic regurgitation ?Pulmonic stenosis ?Pulmonic valve disease ?Tricuspid regurgitation ?Tricuspid stenosis ?Tricuspid valve disease


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch 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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