Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Posterior reversible encephalopathy syndrome (PRES) or leukoencephalopathy syndrome was introduced into clinical practice in 1996 by Hinchey et al., to describe unique syndrome, clinically expressed during hypertensive and uremic encephalopathy, eclampsia, and immunosuppressive therapy. Hyperperfusion with resultant disruption of the blood-brain barrier results in vasogenic edema, but not infarction, most commonly in the parieto-occipital regions. The severity of this clinical symptom varies. For example, the visual disturbance can manifest as blurred vision, homonymous hemianopsia, or even cortical blindness. Patients may be mildly confused or agitated but can become comatose. Other symptoms less commonly seen include nausea, vomiting, seizures, and brainstem deficits. Chronic kidney disease (CKD) and acute kidney injury are both commonly present in patients with PRES. We are presenting a rare case of neurogenic bladder who developed PRES after augmentation cystoplasty due to underlying CKD.
 ...
PMID:Posterior Reversible Encephalopathy Syndrome after Augmentation Cystoplasty in a Child with Neurogenic Bladder. 3005 Feb 67

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensorimotor polyneuropathy and leukoencephalopathy. The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test. A 19-year-old Cape Verdean patient with a history since childhood of recurrent episodes of nausea, vomiting, diarrhoea and painful abdominal distension associated with progressive motor disability with difficulty in climbing stairs and running and clumsiness with her hands. The diagnostic workup was suggestive of MNGIE. Genetic screening of the TYMP gene identified a novel mutation (c. 1283 G>A). Patients with MNGIE have significant comorbidity and mortality, and they are frequently misdiagnosed. A better acknowledgment of this disorder is essential to permit an earlier diagnosis and to improve disease management.
 ...
PMID:Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands. 3188 62


<< Previous 1 2 3