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MedGen for PubMed (Select 11409587)

Items: 2

1.

Tuberculosis

Tuberculosis (TB) is a disease caused by bacteria called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but they can also damage other parts of the body. . TB spreads through the air when a person with TB of the lungs or throat coughs, sneezes, or talks. If you have been exposed, you should go to your doctor for tests. You are more likely to get TB if you have a weak immune system. Symptoms of TB in the lungs may include. - A bad cough that lasts 3 weeks or longer. - Weight loss. - Loss of appetite. - Coughing up blood or mucus. - Weakness or fatigue . - Fever. - Night sweats. Skin tests, blood tests, x-rays, and other tests can tell if you have TB. If not treated properly, TB can be deadly. You can usually cure active TB by taking several medicines for a long period of time. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
22513
Concept ID:
C0041296
Disease or Syndrome
2.

Persistent hyperinsulinemic hypoglycemia of infancy

Familial hyperinsulinism (referred to as FHI in this GeneReview) is characterized by hypoglycemia that ranges from severe neonatal-onset, difficult-to-manage disease to childhood-onset disease with mild symptoms and difficult-to-diagnose hypoglycemia. Neonatal-onset disease manifests within hours to two days after birth. Childhood-onset disease manifests during the first months or years of life. In the newborn period, presenting symptoms may be nonspecific, including seizures, hypotonia, poor feeding, and apnea. In severe cases, serum glucose concentrations are typically extremely low and thus easily recognized, whereas in milder cases, variable and mild hypoglycemia may make the diagnosis more difficult. Even within the same family, disease manifestations can range from mild to severe. Individuals with autosomal recessive familial hyperinsulinism, caused by mutations in either ABCC8 or KCNJ11 (FHI-KATP), tend to be large for gestational age and usually present with severe refractory hypoglycemia in the first 48 hours of life; affected infants usually respond only partially to diet or medical management (i.e., diazoxide therapy) and thus may require pancreatic resection. Individuals with autosomal dominant FHI-KATP tend to be appropriate for gestational age at birth, to present at approximately age one year (range: 2 days - 30 years), and to respond to diet and diazoxide therapy. Exceptions to both of these generalities have been reported. FHI-GCK, caused by mutations in GCK, may be much milder than FHI-KATP; however, some persons have severe, diazoxide-unresponsive hypoglycemia. FHI-HADH, caused by mutations in HADH, tends to be relatively mild, although severe cases have been reported. Individuals with FHI-HNF4A, caused by mutations in HNF4A, are typically born large for gestational age and have mild features that respond to diazoxide treatment. FHI-UCP2, caused by mutations in UCP2, is a rare cause of diazoxide-responsive FH1. Hyperammonemia/hyperinsulinism (HA/HI) is associated with mild-to-moderate hyperammonemia and with relatively mild, late-onset hypoglycemia; most but not all affected individuals have mutations in GLUD1. [from GeneReviews]

MedGen UID:
226230
Concept ID:
C1257959
Disease or Syndrome

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