Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016382 (flushing)
 6,387 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34-year-old male patient with Fabry disease (OMIM 301500) commenced enzyme replacement therapy (ERT) with Agalsidase alfa, with positive clinical response. Infusion reactions, initially mild and easily managed, commenced during his 13th infusion, and continued over the next 3 years. Severity of reactions subsequently increased despite very slow infusion, extended prophylactic medication and attempted desensitisation, requiring regular intensive care unit (ICU) admissions. Facial oedema and flushing, throat tightness, headache and joint pain typically occurred 4-36 h after completion of most infusions, responding rapidly to subcutaneous adrenaline. Low titre specific IgG seroconversion was noted at 12 months, with subsequent reversion to negative after 5 years, despite persistence of infusion reactions. Specific IgE and skin testing was negative. Trial of ERT product switch to Agalsidase-beta resulted in no improvement in reactions. At 5 years, ERT was ceased in the face of recurrent ICU readmissions. In the face of progressive clinical deterioration, he underwent tracheostomy to allow recommencement of ERT. Two years later, he has clinically improved on regular attenuated dose Agalsidase-beta, administered by slow infusion in a local hospital setting.
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PMID:Severe infusion reactions to fabry enzyme replacement therapy: rechallenge after tracheostomy. 2343 Sep 25

The Rift Valley fever (RVF) is a neglected, emerging, mosquito-borne disease with severe negative impact on human and animal health and economy. RVF is caused by RVF virus of the family of Bunyaviridae, genus Phlebovirus. RVF is an acute, febrile disease affecting humans and a wide range of animals. The virus is trans-mitted through the bites from mosquitoes and exposure to viremic blood, body fluids, or contact with tissues of infected animals or by inhaling natural virus aerosols, also possibly by consumption of infected unpasteurized milk. The RVF-virus replicate at the site introduction and in local lymphatic followed by viremia and spread to other organs as the liver and central nervous system, causing the hepatic necrosis and eosinophilia cytoplasmic degeneration. The main signs and symptoms are fever, headache, myalgia, arthralgia, photophobia, bradycardia, conjunctivitis and flushing face. Main complications include jaundice, hemorrhagic, meningoencephalitis and retinal lesions. Generally speaking, in the 21st Century, the vector-borne infectious diseases, was accepted as the disaster issues with the considerable significant morbidity and mortality. These facts should be considered by the public health, veterinary and agricultural authorities
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PMID:The Rift Valley fever: could re-emerge in Egypt again? 2369 15

Schnitzler syndrome is a rare, auto inflammatory condition known to manifest with bone pain, urticarial rash, fevers, relapsing arthralgia, and fatigue. In this case report, we describe a patient who was diagnosed with Schnitzler Syndrome that had initially presented with a unilateral pressure-type headache with a sensation of a 'dagger' stabbing into the back of the eye. He also had an associated ipsilateral redness of the conjunctiva, eyelid swelling, subtle optic disc elevations bilaterally and facial flushing - but with no visual acuity, pupillary, or lacrimatory changes. Anterior segment, fundoscopy, intraocular pressures and extraocular muscle movements were otherwise normal.
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PMID:The First Case Report of Schnitzler Syndrome Presenting with Eye Pain. 3079 79


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