Archive for April, 2010
Function of the ion channel in normal cells and cells with cystic fibrosis?
Genetic Testing In Pregnancy For Certain Genes
Genetic testing in pregnancy for certain genes and genetic disorders helps people to prepare for the birth of their child whether healthy or otherwise. Prenatal diagnosis is preformed to determine if a fetus has any abnormal genes that may be cause for alarm. Different ethnic groups are more prone to certain genetic disorders, therefore genetic testing in pregnancy allows parents the ability to decide if they want to continue the pregnancy or not. Either way you will know the status of your unborn child and you receive all the information you need to plan your decision.
Although genetic testing in pregnancy does not come with the guarantee that your baby will be born healthy, it helps to eliminate possible concerns about certain genetic disorders that may be a concern because of the family history of genetic disorders. Some of the genetic disorders they test for are Downs Syndrome, Cystic Fibrosis and Tay-Sachs disease. The unborn fetus is tested for the genes and in some cases, more than one gene of the same condition may result in the baby being born with the disorder or being born as a carrier if only one gene is detected.
The ethics of genetic testing leave some people and groups undecided. Most people want a baby even if tests show an abnormal gene, but if the disorder that will cause a painful life for the baby, terminating the pregnancy may need to be considered. It is hard to watch your baby suffer if you know what the results will be in the end. People who have genetic disorder genes usually have testing done before pregnancy, but some people do not even realize they have a bad gene and become a father and mother to be.
If genetic testing in pregnancy shows a positive result parents can receive counseling that will provide support and information on issues surrounding the disorder. You may need counseling to help you make a decision about the future of your pregnancy or about how you will deal with the upcoming birth and thereafter. This information is vital for some parents if they are at risk for passing on a genetic disorder.
For genetic testing in pregnancy, the doctor will use one of eight ways to do the test; it might be hair, saliva, blood, bone, stool, semen, body tissue or urine. If these tests show any abnormalities, further testing may require doing an amniocentesis, which is an invasive procedure and has some risks associated with doing this procedure. People always plan to have a healthy baby, but sometimes things happen and it might not end this way. If you have genetic testing in pregnancy done early enough, you can plan for the future of your baby.
By: Judy Wellsworth
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An Interview with CF Foundation President & CEO Dr. Robert J. Beall on 30 Years of Leadership
A CF mom interviews Foundation President and CEO Dr. Robert J. Beall on his 30 years of leadership and what the future holds.
how to deal with cistic fibrosis?
i have cistic fibrosis and questions about marijuana, will it affect me if i only try it once?
i have a semi- mild case of cf and i cough a lot! i want to know what its like to be high but i only want to try a joint once. im wondering if one joint could affect my health or cf and if i could get cought at the doctors when i *** ina cup or take lung tests. like i said, id only try it one time in my life
Lupus Nephritis and Its Medications
One of the country’s most usual medical circumstances is lupus which occurring to more Americans than cerebral palsy, multiple sclerosis, sickle-cell anemia, cystic fibrosis or AIDS. Up till now, the majority individuals don’t understand what lupus is. Furthermore smaller numbers realize that half of all lupus patients grow kidney troubles.
Kidney damage from lupus might be gentle or harsh. It could bring about damage to the filtering parts of the kidney. Because these filtering parts clean up your blood of waste, damage to them could lead to your kidneys to run badly or not in any way. It is approximately 90 percent of lupus patients will suffer some kidney damage, however just two to three percent really grow kidney disease ruthless enough to need treatment.
Lupus nephritis or lupus glomerulonephritis are two medical terms for the kidney disease that happens in systemic lupus erythematosus. It is predictable that roughly one-third of people with lupus will build up nephritis that needs medical check up and treatment. Lupus nephritis is a significant and potentially critical symptom of lupus.
The medical term for kidney disease that takes place in SLE patients is lupus nephritis. By this disease, the minute filters in the kidneys are injured ensuing in a loss of kidney function. This can cause edema or fluid retention with weight gain and swelling. Puffiness in the legs, ankles and/or fingers is frequently the initial grievance of lupus nephritis patients. Except edema, there are so little signs or symptoms. Pain in the abdomen or back, or burning in ********* don’t be made by lupus nephritis.
Any distinct type of lupus nephritis takes various treatments obtainable that are effectual. Furthermore, the treatment for particular patients with lupus nephritis relies not merely on their own special type of kidney disease, other than on the way in which lupus is influencing other regions of their body, their total health, and their private wishes as well. In addition, medical check of circumstances that can additional damage the kidneys, for example elevated blood pressure and medication-induced kidney toxicity is important.
In spite of proper treatment, a number of patients with lupus nephritis will expand chronic kidney disease that can cause kidney failure. End stage kidney disease affected by lupus could be dealt with dialysis or a kidney transplant with the similar sort of success as kidney failure affected by other kinds of disease.
Generally, lupus nephritis is an effect of inflammation in the kidneys that is related with an overactive immune system. Accordingly, antibodies against the patient’s own tissues create antibody-tissue unions that in order put in the kidney and instigate a detrimental inflammatory reaction.
Actually, it is so frequent that the harshness of the kidney disease equivalents the harshness of the immune abnormalities that could be evaluated in the blood of patients with lupus. Consequently, treatment typically engages medications that diminish inflammation and repress the immune system. However, when lupus nephritis cause kidney failure, dialysis or transplantation is essential to maintain life.
By: MC Raflesia
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What is Cystic Fibrosis?
Amenorrhea – Definition, Causes, Symptoms and Treatment
Amenorrhea is absence of menstruation. Amenorrhea is a normal feature in prepubertal, pregnant, and postmenopausal females. Amenorrhea can be caused by any number of changes in the organs, glands, and hormones involved in menstruation. Stress due to internal or situational concerns can cause secondary amenorrhea, because stress interferes with the brain’s control (through hormones) of the ovaries. Amenorrhea may be classified as primary or secondary. primary amenorrhea – from the beginning and usually lifelong; menstruation never begins at puberty. Primary amenorrhea is defined as the failure of menses to occur by age 16 years. Secondary amenorrhea – due to some physical cause and usually of later onset; a condition in which menstrual periods which were at one time normal and regular become increasing abnormal and irregular or absent. Secondary amenorrhea is defined as the cessation of menses once they have begun. This problem is seen in about 1% of women of reproductive age. Amenorrhea occurs if the hypothalamus and pituitary fail to provide appropriate gonadotropin stimulation to the ovary, resulting in inadequate production of estradiol or in failure of ovulation and progesterone production. Amenorrhea can also occur if the ovaries fail to produce adequate amounts of estradiol despite normal and appropriate gonadotropin stimulation by the hypothalamus and pituitary. Chronic conditions (eg, starvation, excessive exercise, depression, psychological stress, marijuana use, Crohn disease, cystic fibrosis, sickle cell disease, thalassemia major, HIV infection, renal disease, thyroid disease, diabetes mellitus, anorexia nervosa)
Physiologic states of amenorrhoea are seen during pregnancy and lactation (breastfeeding). The hypothalamus is the initiator of the follicular phase. The gonadotropin-releasing hormone (GnRH) pump located in the hypothalamus releases GnRH in a pulsatile fashion into the portal vessel system surrounding the anterior pituitary gland. GnRH interacts with the anterior pituitary gland to release follicle-stimulating hormone (FSH) in the follicular phase. FSH is secreted into the circulation and interacts with the granulosa cells surrounding the developing oocytes. As levels of progesterone, estradiol, and inhibin decline 2-3 days before menses, the hypothalamus begins to release higher levels of FSH, which recruits oocytes for the next menstrual cycle. As FSH increases during the early portion of the follicular phase, it interacts with granulosa cells to stimulate the aromatization of androgens into estradiol. Early in the follicular phase, both estradiol and FSH increase the FSH-receptor content of the developing follicles. Over the next several days, the steady increase of estradiol (E2) levels exerts a progressively greater suppressive influence on pituitary FSH release. Only one selected lead follicle, with the largest reservoir of estrogen, can withstand the declining FSH environment. The remaining oocytes that initially were recruited with the lead follicle undergo atresia. Immediately prior to ovulation, the combination of E2 and FSH leads to the production of luteinizing-hormone (LH) receptors on the granulosa cells surrounding the lead follicle.
Hormonal contraceptives that contain only progestogen like the oral contraceptive Circulating estradiol stimulates growth of the endometrium. Progesterone, produced by the corpus luteum formed after ovulation, transforms proliferating endometrium into secretory endometrium. During the late follicular phase, estrogen positively influences LH secretion, instead of suppressing pituitary LH secretion as it does early in the follicular phase. To have this positive effect, the E2 level must achieve a sustained elevation for several days. The LH surge promotes maturation of the dominant oocyte, the release of the oocyte and then the luteinization of the granulosa cells and the surrounding theca cells of the dominant follicle resulting in progesterone production. The appropriate level of progesterone arising from the maturing dominant follicle contributes to the precise timing of the mid-cycle surge of LH. E2 promotes uterine endometrial gland growth, which allows for future implantation. Other signs or symptoms along with the absence of periods, such as milky nipple discharge, headache, vision changes, or excessive hair growth on your face and torso (hirsutism).
Treatments of Amenorrhea based on the condition. Medical care needs are defined by the etiology of the menstrual cycle disturbance and the desires of the patient. Progesterone supplements (hormone treatment). Gonadotropin therapy or the use of pulsatile GnRH therapy is required to induce ovulation for patients with infertility whose underlying pathology cannot be reversed. Dopamine agonists are effective in treating hyperprolactinemia. Oral contraceptives (ovulation inhibitors). Dietary modifications (to include increased caloric and fat intake). Hormone replacement therapy is required to maintain bone density in patients whose underlying pathology cannot be reversed to restore normal endocrine function. In most cases, physicians will induce menstruation in non-pregnant females who have missed two or more consecutive menstrual periods, because of the danger posed to the uterus if the non-fertilized egg and endometrium lining are not expelled. Without this monthly expulsion, the risk of uterine cancer increases.Women with evidence of hyperandrogenism and disordered menses have many other medical issues that must be addressed. Specific treatment for amenorrhea is your opinion or preference and expectations for the course of the condition.
By: Juliet Cohen
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