Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It's 2000 HRS on a Friday evening. You're assigned to an ALS engine company, and you're just settling down after a busy day when you're dispatched along with a BLS ambulance to a report of a sick person outside a local club where they're holding a concert. During your response, dispatch advises that they're receiving multiple calls on the incident and are dispatching a second BLS ambulance to the call. * As you turn the corner and approach the scene, you notice a haze in the air coming from an industrial site on the same side of the street and see approximately 200 people exiting the club in haste. Several dozen patrons line the street between the club and the subway station. They're coughing and crying, and several are vomiting. * The driver stops the engine in front of the subway entrance, which is located approximately 500 feet from the club and uphill and upwind from the haze. The scene is overwhelming, even to the captain, who turns to you-as the paramedic on the crew-and asks what you want done first. Your first thought is, Triage. But you know that triaging these patients is more complicated than your everyday two-car collision.
 ...
PMID:Medical triage for WMD incidents incidents: an adaptation of daily triage. 1848 52

Recurrence of severe microbial infections results from a primary immunodeficiency disorder known as major histocompatibility complex class II deficiency or bare lymphocyte syndrome type II. Immunologic function is severely impaired due to the absence of MHC class II molecules on the surface of immune cells. Here, we report a 5-year-old boy with a novel homozygous mutation in RFXANK gene that negatively affects the proper expression of MHC class II molecules by antigen presenting cells. The frame shift mutations in RFXANK gene and negative HLA-DR proteins expression on peripheral blood mononuclear cells were identified and confirmed by whole exome sequencing, Sanger sequencing, and flow cytometry. The patient was referred with long-term severe prolonged diarrhea, fever, coughing, and vomiting. Also, antibiotic resistance, normal T cell, and NK cell counts with low B cell count and reduced serum immunoglobulin level were observed. The patient did not give a dramatic response to intravenous immunoglobulin infusion. The significancy of this report is the novelty of mutation and low B cell count which is not commonly expected in such patients. The final diagnosis of BLS type II is based on WES, Sanger sequencing, and flow cytometric evaluation. Moreover, it seems that the only therapeutic choice is hematopoietic stem cell transplantation.
 ...
PMID:A novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency: a case report. 3257 29