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MedGen for PubMed (Select 9276751)

Items: 3

1.

Diphtheria

Diphtheria is a serious bacterial infection. You can catch it from a person who has the infection and coughs or sneezes. You can also get infected by coming in contact with an object, such as a toy, that has bacteria on it. Diphtheria usually affects the nose and throat. Symptoms include. -Sore throat. -Swollen glands in the neck. -Fever. -Weakness. Your doctor will diagnose it based on your signs and symptoms and a lab test. Getting treatment for diphtheria quickly is important. If your doctor suspects that you have it, you'll start treatment before the lab tests come back. Treatment is with antibiotics. The diphtheria, pertussis, and tetanus (DPT) vaccine can prevent diphtheria, but its protection does not last forever. Children need another dose, or booster, at about age 12. Then, as adults, they should get a booster every 10 years. Diphtheria is very rare in the United States because of the vaccine. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
4334
Concept ID:
C0012546
Disease or Syndrome
2.

Muir-Torré syndrome

Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GeneReviews]

MedGen UID:
231157
Concept ID:
C1321489
Neoplastic Process
3.

Mohr-Tranebjaerg syndrome

Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning approximately age 20 years, and dementia beginning at approximately age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment appears to be consistent in age of onset and progression, whereas the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia. [from GeneReviews]

MedGen UID:
162903
Concept ID:
C0796074
Disease or Syndrome
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