*  What Does It Mean to Be a Cystic Fibrosis Carrier?
Learn about what it means to be a cystic fibrosis carrier, how cystic fibrosis is inherited, and whether your child is at risk for developing it.
*  Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis |...
Cultured skin fibroblasts from patients with cystic fibrosis (CF) are more resistant to dexamethasone toxicity than are normal cells. We now report that, when fibroblasts cultured from obligate CF heterozygotes are exposed to dexamethasone, they have an intermediate survival compared to normal and homozygous CF cells. When dexamethasone survival was tested on cells from four patients undergoing amniocentesis, cells from a woman at risk of producing a child with CF showed significant dexamethasone resistance, similar to that of fibroblasts derived from lnown CF homozygotes; the other amniotic cell specimens showed dexamethasone sensitivity similar to that of normal skin fibroblasts. These data suggest that the dexamethasone resistance previously observed in skin fibroblasts may also be useful in the prenatal diagnosis of CF. ...
*  Disease carrier | definition of Disease carrier by Medical dictionary
Looking for online definition of Disease carrier in the Medical Dictionary? Disease carrier explanation free. What is Disease carrier? Meaning of Disease carrier medical term. What does Disease carrier mean?
*  Cystic Fibrosis Carrier Screening - North Kansas City Hospital, Kansas City, MO
Genetic testing can help people find out if they may be carriers of cystic fibrosis (CF). This type of genetic testing allows parents to find out if they have an increased chance of having a child with CF. Anyone who is interested in knowing his or her carrier status can request the test, but the test can only be ordered by a doctor. Genetic counseling to help you understand the meaning and possible results of the test is recommended prior to genetic testing.. CF carrier screening is recommended for all teen and adult females who are pregnant or are thinking about getting pregnant.footnote 1. If the test shows that you are a carrier of cystic fibrosis (CF), your partner should also be tested.. If you had this screening test before, do not get tested again. Give your past results to your doctor.. ...
*  Cystic Fibrosis Carrier Testing<...
Cystic fibrosis is a multisystem disease that affects the lungs, pancreas, gastrointestinal tract and reproductive systems. Symptoms of cystic fibrosis can vary amongst individuals and most frequently include lower airway inflammation and chronic infections that can progress to end-stage lung disease. Pancreatic insufficiency with malabsorption is a complication that occurs in many individuals with CF. Most males with cystic fibrosis experience infertility. Individuals with cystic fibrosis have normal intelligence and the average median survival is currently 37 years. The most common cause of death is respiratory failure. Treatment of an individual with CF can include medication to improve digestion, monitored nutrition and lung therapy. Up to 15% of individuals with a diagnosis of cystic fibrosis can have a mild form with an average life expectancy of 56 years. Cystic Fibrosis is inherited in an autosomal recessive manner.. Our Tests ...
*  Handbook of Genetic Counseling/Cystic Fibrosis Carrier Screening-2 - Wikibooks, open books for an open world
4. Prenatal: Please Note: Call a laboratory genetic coordinator prior to obtaining any specimens. In some circumstances, specimens from other family members may be required. All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for analysis of possible maternal cell contamination. Discard first 2 ml; then 15 ml amniotic fluid in 15 ml orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or 1 T-25 flask of confluent cells. Additional sample must be obtained for back-up culture at one of our cytogenetics laboratories or another facility. If additional testing is desired, more amniotic fluid is needed. For example, chromosome analysis requires an additional 15-25 ml (see Cytogenetics - Amniotic Fluid Chromosome Analysis test page: http://www.genzymegenetics.com/Our-Services/Reproductive-Testing/amniotic-fluid-testing.aspx) and AFAFP requires an additional 2 ml (see Amniotic ...
*  Seriously?? A cystic fibrosis carrier?? Seriously?? | January - March Due Date Club Message Board
Ok, I need to like write a book or something. All of my medical issues are really getting out of control now. What, was I created with used, reject parts or
*  Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) - Full Text View - ClinicalTrials...
Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2b extension trial that will evaluate the long-term safety of ataluren (PTC124) in boys with nonsense mutation DMD/BMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, and other important clinical and laboratory measures ...
*  Horizon Genetic Carrier Screening ~ Should Genetic Testing Be Part Of Your Family Planning?
Often when a couple starts to plan their family some of the things we tend to discuss are how many kids we would like to have, whether one parent will stay home with the kids, and where they will go to school.. Rarely, however, does a family's medical history come into question, unless a member of your family has been diagnosed with a rare disorder or genetic condition. But the truth is it is common for individuals to be carriers of 4-6 different recessive genetic conditions. If you and your partner are carriers of the same genetic condition, you have a 1 in 4 chance of having an affected child.. Horizon Genetic Carrier Screening can help parents understand their chances of having a child with a specific genetic disease before or during pregnancy, so they can plan ahead.. ...
*  St 14 (DX S52) VNTR polymorphism in the Indian population and its application in carrier detection and prenatal diagnosis of...
The frequency of different polymorphic variants of the multi-allelic locus DXS52 (St14) of the human X chromosome, adjacent to the factor VIII gene, was evaluated by means of PCR for the heterogeneous population of India. It was shown that the heterozygosity index of this polymorphism in the studied population of 282 unrelated subjects was much higher (88%) than reported elsewhere. Two new alleles (1750 bp and 1420 bp) were detected during this study. Out of 65 families studied using this polymorphism for carrier detection and antenatal diagnosis, 58 were informative with this polymorphism, thus indicating that this polymorphism can serve as an important marker in the carrier detection and prenatal diagnosis of haemophilia A families.
*  Patent US5592131 - System and method for modulating a carrier frequency - Google Patents
A carrier frequency modulating system and method for producing a modulated carrier frequency is disclosed. The system comprises a carrier frequency signal generator for producing a carrier frequency signal at a carrier frequency at an output thereof. The system further comprises a sequencer for producing a modulation signal at an output thereof. This modulation signal comprises a plurality of modulation signal portions separated by at least one null modulation signal portion having a corresponding time length. The system is provided with a modulator for producing a modulated carrier frequency signal at an output thereof. The modulator has a first input connected to the output of the carrier frequency signal generator for receiving the carrier frequency signal, and has a second input for receiving the modulation signal. The system further comprises a power supply unit for supplying electrical power to the carrier frequency signal generator. The sequencer is connected to the carrier frequency signal
*  Cystic Fibrosis Testing - Redorbit
Genetic screening for cystic fibrosis carrier mutations (one copy of a mutated gene) is universally recommended for the reproductive-age population. Current professional guidelines call for screening a panel of 23 common mutations in CFTR; however, many laboratories screen for an expanded panel of mutations. In the May 2009 issue of The Journal of Molecular Diagnostics, three articles describe improvements in cystic fibrosis genetic screening. In one article, Pratt et al describes a project coordinated by the Centers for Disease Control and Prevention's Genetic Testing Reference Material (GeT-RM) Program to develop a set of reference materials for the expanded cystic fibrosis panel of mutations. The public availability of these materials will help to ensure the accuracy of cystic fibrosis genetic testing. The reports by Schwartz et al and Hantash et al identify mutations that may lead to false screening results, either due to a large deletion in CFTR or because of mutations that interfere ...
*  Did you know BabyCenter has many health-related groups? - BabyCenter
Our community is full of numerous support groups for many different health-specific topics for you and for your children. If you are looking for advice or answers about a health-related topic, you can Search for different keywords to find groups that fit your needs. Here is a small selection of health-related groups some may be interested in: Unique Chromosomes Craniosynostosis Support Birth Defects Speech and language concerns Gestational Diabetes Mamas Babies with Reflux Hirschsprung's Disease and Other GI Disorders Moms of children that have Hydronephrosis or Kidney Reflux Epilepsy Cystic Fibrosis Carriers Children with T1 Diabetes
*  Did you know BabyCenter has many health-related groups? - BabyCenter
Our community is full of numerous support groups for many different health-specific topics for you and for your children. If you are looking for advice or answers about a health-related topic, you can Search for different keywords to find groups that fit your needs. Here is a small selection of health-related groups some may be interested in: Unique Chromosomes Craniosynostosis Support Birth Defects Speech and language concerns Gestational Diabetes Mamas Babies with Reflux Hirschsprung's Disease and Other GI Disorders Moms of children that have Hydronephrosis or Kidney Reflux Epilepsy Cystic Fibrosis Carriers Children with T1 Diabetes
*  Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy ...
*  Design and validation of a metabolic disorder resequencing microarray (BRUM1). - Semantic Scholar
The molecular genetic diagnosis of inherited metabolic disorders is challenging. The diseases are rare, and most show locus heterogeneity. Hence, testing of the genes associated with IMDs is time consuming and often not easily available. We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NPC1, NPC2, VPS33B, WFS1, and SLC19A2) were amplified by PCR and hybridized to the array. A further patient cohort with 48 different mutations in NPC1 were analyzed blind. Out of 76 point variants, 73 were identified using automated software analysis followed by manual review. Ten insertion and deletion variants were detected in the extra tiling using mutation specific probes, with 11 heterozygous deletions and 3 heterozygous insertions. In summary, ...
*  DNA Direct - What Are Ashkenazi Jewish Genetic Diseases?
Family History: A family history is a good reason to have carrier testing, but regular testing may not work well for you because you aren't Jewish. Because you have a family history of one of these diseases, you have a higher-than-average chance of being a carrier - no matter where your ancestors came from. See Genetics of Ashkenazi Jewish Genetic Diseases to figure out your carrier risk if you don't already know. Your doctor or genetic counselor can also tell you this based on your family history.. Regular carrier testing for the Jewish genetic diseases usually looks for just the gene mutations that are more common in Ashkenazi Jews. Non-Jewish people can be carriers of these diseases, but they may have different gene mutations.. If you decide to have carrier testing, try to find out the names of the mutations that run in your family. This will help your doctor order testing that is able to find your family's mutations. If you cannot find ...
*  Patent US6801567 - Frequency bin method of initial carrier frequency acquisition - Google Patents
A frequency bin method of carrier frequency acquisition uses a plurality of predetermined carrier frequency offset bins. A single bin is selected from among the plurality of bins. A local VCO is then adjusted to remove the carrier frequency offset associated with the single selected bin. Carrier frequency acquisition is then attempted using the adjusted VCO. If successful, the receiver enters its steady state operating mode. If unsuccessful, a new bin is selected and the VCO is again adjusted using the new carrier frequency offset associated with the newly selected bin. The process is repeated until successful communication is achieved in association with a properly adjusted VCO.
*  Angelina Jolie's 'Jewish genetic mutation': Breast cancer gene is common in Israel, but few opt for preventive mastectomy -...
A study of 5,405 U.S. women with the common Ashkenazi Jewish mutation that increases carriers' risk of breast cancer, who were treated at the Mayo Clinic during the 1990s, found 45 percent chose prophylactic mastectomy, like Angelina Jolie.
*  College of Medicine News
Researchers have determined that two mutations on a single gene can interact in a way that lowers the carrier's risk for a heart attack. The variants are found in a gene called DBH, which regulates an enzyme involved in the conversion of dopamine ...[Read More] ...
*  Hiperfenielalaninemie"e : mutasie-analise
The hyperphenylalaninemias are disorders of phenylalanine hydroxylation. The disease results from the absence of the hepatic phehylalaniene hydrosylase (PAH) and causes mental retardation. The clinical manifestations and consequences of hyperphenylalaninaemia are due to abnormal accumulation of normal metabolites, thus resulting in mental retardation. This can be rectified by early diagnosis of the disease and the dietary treatment there-of. It is unfortunate that in most instances the diagnosis is only made after permanent and irreversible brain damage has occurred. This can be rectified if PKU carrier diagnosis is applied to identify those high risk families. ,br,,br, Metabolite analyses led to the identification of hyperphehylalaninaemia patients. This phase was part of the normal screening program for the identification of amino-acidpathies of severely ill infants referred to ,the Department of ...
*  Twenty-Year Outcome Analysis of Genetic Screening Programs for Tay-Sachs and Beta-Thalassemia Disease Carriers in High Schools
Programs for education, screening, and counseling of senior-high-school students, in populations at high risk for Tay-Sachs and beta-thalassemia diseases, have existed for ,20 years in Montreal. Four process and outcome ...
*  badanie w kierunku nosicielstwa szczepów MRSA/MRCNS | testing for MRSA/MRCNS carrier status/state
(KudoZ) Polish to English translation of badanie w kierunku nosicielstwa szczepów MRSA/MRCNS: testing for MRSA/MRCNS carrier status/state [Medical (general) (Medical)].
*  DMOZ - Health: Conditions and Diseases: Digestive System Disorders: Stomach: Indigestion
Dyspepsia is discomfort often described as indigestion, gaseousness, fullness, or gnawing or burning pain localized to the upper abdomen or chest that has no specific cause or diagnostic evaluation. Dyspepsia is very common. Dyspeptic symptoms may indicate cardiac ischemia (in which exertion increases the discomfort), GERD, gastritis or peptic ulcer disease, or cholecystitis.
*  234658 | Stanford Health Care
3 ',4-Dihydroxyflavonol reduces infarct size in a porcine acute myocardial ischaemia-reperfusion model Congress of the European-Society-of-Cardiology Teramoto, T., Ikeno, F., Lyons, J., Thomas, C. J., May, C. N., Woodman, O. L., Jarrott, B., Yeung, A. C., Fearon, W. F. OXFORD UNIV PRESS. 2010: 493-494 View details for Web of Science ID 000281531903177 ...