Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myasthenia gravis (MG) is caused by failure of chemical transmission at the neuromuscular junction. It is an autoimmune disorder in which antibodies interfere with neuromuscular transmission. It has a prevalence of around 20 per 100,000. The incidence is bimodal with a 2:1 female to male ratio in the younger population and a reversed sex ratio over the age of 60. Around 15% of cases are associated with a thymoma. MG presents with fatiguable painless muscle weakness. Diplopia and ptosis are the most common presenting features. Around 80% of patients presenting with ocular MG will subsequently develop more generalised weakness. Respiratory muscle weakness is the most serious manifestation of MG and can be fatal. A detailed history is the most valuable tool in the diagnosis of MG. This should elicit the pattern of weakness, severity and diurnal variation. Exacerbating factors including extremes of weather, emotional stress, menstruation and intercurrent illness should be enquired about. No one diagnostic test is 100% sensitive and patients who have negative antibodies and normal neurophysiology may still have MG. Treatment should be directed at ameliorating weakness with acetylcholinesterase blockers and modulating the immune system. Pyridostigmine is the most widely used acetylcholinesterase inhibitor. Most patients with generalised MG require immunomodulatory therapy and prednisolone is generally used as the first-line agent. Despite the availability of symptomatic and immunomodulatory treatment, up to 20% of patients will experience a myasthenic crisis requiring admission for ventilatory support at some stage.
 ...
PMID:History central to diagnosing myasthenia gravis. 2113 88

PHACE syndrome classically presents with a large, segmental facial infantile hemangioma (IH) associated with structural and vascular abnormalities involving the head and neck, heart, and eyes. We evaluated an infant who presented with ptosis caused by a clinically subtle, deep right-sided periorbital IH identified on MRI that also incidentally revealed hypoplasia of the right common carotid and right internal carotid arteries, supporting a diagnosis of PHACE syndrome. She subsequently developed acute-onset, transient right-sided facial erythema without anisocoria, triggered by feeding and emotional stress. We believe this represents a Frey syndrome-like developmental dysautonomia, previously unreported in association with PHACE syndrome, suggesting an associated defect in neurovascular embryogenesis.
 ...
PMID:Frey syndrome-like developmental dysautonomia in a child with PHACE syndrome. 3210 32