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)

A 13 1/2-month-old boy with severe microcephaly was found to have nearly total absence of the telencephalon. The patient had marmorated skin, hypoplastic penis and undescended testes. Spastic tetraparesis was present. Moro, grasp and sucking reflexes were easily elicited. He could not sit or stand, but was able to raise and support his head. He had occasional convulsions and a tendency to hypothermia and vomiting. The EEG showed symmetrical low-voltage theta-delta activity. His psychomotor development was severely retarded. Bone age was normal. Head circumference was 28cm at six months and did not increase after this age. At autopsy the small cranial vault and meninges were found to be intact. Brain weight was 105g. The supratentorial part of the brain was extremely small, consisting of an irregularly lobulated mass about 3cm in diameter and without any median fissure or ventricular cavity. The telencephalon was severely involved and partly replaced by gliomesenchymal scar tissue, while the diencephalic structures, including the eyes and the optic nerves and chiasm, were comparatively well-developed. The cerebellum and brain stem were essentially intact.
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PMID:Atelencephaly. 91 6

A post mortem material of 11 consecutive cases of severe atlanto-axial dislocation (a.a.d.) with cord compression is reported. The total number of deaths from rheumatoid arthritis (RA) during the period of 5 years was 104, and all were autopsied. Neurological symptoms correlated poorly to fatal a.a.d. Hemiplegia was found in three cases, one of which, however, was caused by thrombosis cerebri. Spastic signs were transiently recorded in two patients and dysphagia in a further two. Five patients had a history of recent vomiting. A.a.d. was the sole or main cause of death in 8 cases and contributory in 2. Sudden death occurred in 7 of the cases. Only 2 cases had obtained a correct diagnosis intra vitam. The CNS findings at autopsy consisted of cord compression (11/11 cases), cord malacia (2/11) and cerebral oedema (3/11). One case had polyarteritis and renal amyloidosis and one pulmonary carcinoma with metastatic spread. Signs of active inflammation in the axial joints were present in 4 cases. This study, based on systematic post mortem examinations, revealed an unexpectedly high and not previously reported incidence of fatal medulla compression in RA patients with a.a.d. (10%).
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PMID:Sudden death in rheumatoid arthritis with atlanto-axial dislocation. 121 Dec 12