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Items: 8

1.

Pertussis

Whooping cough is an infectious bacterial disease that causes uncontrollable coughing. The name comes from the noise you make when you take a breath after you cough. You may have choking spells or may cough so hard that you vomit. . Anyone can get whooping cough, but it is more common in infants and children. It's especially dangerous in infants. The coughing spells can be so bad that it is hard for infants to eat, drink or breathe. . Before there was a vaccine, whooping cough was one of the most common childhood diseases and a major cause of childhood deaths in the U.S. There are fewer cases today because there are both pertussis-only vaccines and combination vaccines for tetanus, diphtheria and pertussis. If you have whooping cough, treatment with antibiotics may help if given early. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
12159
Concept ID:
C0043167
Disease or Syndrome
2.

Tetanus

Tetanus is a serious illness caused by Clostridium bacteria. The bacteria live in soil, saliva, dust, and manure. The bacteria can enter the body through a deep cut, like those you might get from stepping on a nail, or through a burn. The infection causes painful tightening of the muscles, usually all over the body. It can lead to locking of the jaw. This makes it impossible to open your mouth or swallow. Tetanus is a medical emergency. You need to get treatment in a hospital. A vaccine can prevent tetanus. It is given as a part of routine childhood immunization. Adults should get a tetanus shot, or booster, every 10 years. If you get a bad cut or burn, see your doctor - you may need a booster. Immediate and proper wound care can prevent tetanus infection.  [from MedlinePlus]

MedGen UID:
21489
Concept ID:
C0039614
Disease or Syndrome
3.

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
4.

Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. [from ORDO]

MedGen UID:
831067
Concept ID:
CN204472
Disease or Syndrome
5.

Autoimmune interstitial lung, joint, and kidney disease

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from OMIM]

MedGen UID:
452265
Concept ID:
C0231330
Temporal Concept
6.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
7.

Infantile neuroaxonal dystrophy

PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Classic infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with developmental regression, hypotonia, progressive psychomotor delay, and progressive spastic tetraparesis. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid. Many affected children never learn to walk or lose the ability shortly after attaining it. Severe spasticity, progressive cognitive decline, and visual impairment typically result in death during the first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability or ataxia (as in the classic form) or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism presents with subacute onset of dystonia-parkinsonism in late adolescence/early adulthood. Other findings are eye movement abnormalities, pyramidal tract signs, and marked cognitive decline. [from GeneReviews]

MedGen UID:
82852
Concept ID:
C0270724
Disease or Syndrome
8.

Respiratory tract infection

Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. [from MeSH]

MedGen UID:
11199
Concept ID:
C0035243
Disease or Syndrome
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