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Results: 1 to 20 of 22

1.

Spina bifida

Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. [from HPO]

MedGen UID:
505230
Concept ID:
CN002193
Finding
2.

Spina bifida

Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood. In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.
[from GHR]

MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
3.

Vitamins

Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are vitamins A, C, D, E, K and the B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate). You can usually get all your vitamins from the foods you eat. Your body can also make vitamins D and K. People who eat a vegetarian diet may need to take a vitamin B12 supplement. . Each vitamin has specific jobs. If you have low levels of certain vitamins, you may develop a deficiency disease. For example, if you don't get enough vitamin D, you could develop rickets. Some vitamins may help prevent medical problems. Vitamin A prevents night blindness. The best way to get enough vitamins is to eat a balanced diet with a variety of foods. In some cases, you may need to take a daily multivitamin for optimal health. However, high doses of some vitamins can make you sick.  [from MedlinePlus]

MedGen UID:
12117
Concept ID:
C0042890
Pharmacologic Substance
4.

5,10-methylenetetrahydrofolate

A folate-based biomodulator with potential antineoplastic activity. 5,10-methylenetetrahydrofolate (MTHF) stabilizes the covalent binding of the fluorouracil metabolite 5-5-fluoro-2'-deoxyuridine-5'-O-monophosphate (FdUMP) to its target enzyme, thymidylate synthase, which results in inhibition of thymidylate synthase, depletion of thymidine triphosphate (TTP), a necessary constituent of DNA, and tumor cell death. Unlike leucovorin, MTHF, as the active form of folate, does not require metabolic activation and may increase the chemotherapeutic effects of fluorouracil with lower toxicity. [from NCI]

MedGen UID:
59057
Concept ID:
C0048858
Pharmacologic Substance
5.

Neural tube defect

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO) is a bony defect of the spine covered by normal skin. It is mild form of spina bifida and is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634). [from OMIM]

MedGen UID:
18009
Concept ID:
C0027794
Finding
6.

Folic Acid

Folic acid is a B vitamin. It helps the body make healthy new cells. Everyone needs folic acid. For women who may get pregnant, it is really important. When a woman has enough folic acid in her body before and during pregnancy, it can prevent major birth defects of her baby's brain or spine. . Foods with folic acid in them include leafy green vegetables, fruits, dried beans, peas and nuts. Enriched breads, cereals and other grain products also contain folic acid. If you don't get enough folic acid from the foods you eat, you can also take it as a dietary supplement. NIH: National Institutes of Health Office of Dietary Supplements.  [from MedlinePlus]

MedGen UID:
8876
Concept ID:
C0016410
Pharmacologic Substance
7.

Folic acid supplementation

MedGen UID:
641229
Concept ID:
C0556110
Pharmacologic Substance
8.

Growth substance

Signal molecules that are involved in the control of cell growth and differentiation. [from MeSH]

MedGen UID:
315661
Concept ID:
C1812630
Pharmacologic Substance
9.

Folacin

folate and its derivatives. [from CRISP]

MedGen UID:
152036
Concept ID:
C0699376
Pharmacologic Substance
10.

Acrania

MedGen UID:
147316
Concept ID:
C0702169
Congenital Abnormality
11.

Rachischisis

MedGen UID:
120581
Concept ID:
C0266508
Congenital Abnormality
12.

Exencephaly

MedGen UID:
120577
Concept ID:
C0266453
Congenital Abnormality
13.

Congenital anomaly of nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Disease or Syndrome
14.

Cranioschisis

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
15.

Folate

Class of water-soluble vitamins that are coenzymes in single-carbon transfers in the metabolism of nucleic and amino acids. (DRI) [from NCI]

MedGen UID:
59819
Concept ID:
C0178638
Pharmacologic Substance
16.

Iniencephaly

MedGen UID:
57756
Concept ID:
C0152234
Congenital Abnormality
17.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
18.

Craniorachischisis

A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth. [from NCI]

MedGen UID:
56290
Concept ID:
C0152426
Congenital Abnormality
19.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
20.

Diastematomyelia

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. [from NCI]

MedGen UID:
3801
Concept ID:
C0011999
Disease or Syndrome

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