Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027497 (nausea)
 23,468 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An Amerindian girl with Friedreich's ataxia presented at the age of 14 years with intermittent bifrontal headaches and abdominal aching, often associated with nausea and recurrent vomiting and an evanescent pink, blotchy rash on the upper trunk. In these attacks she also had hypertension up to 210/160 mm Hg. Renal function studies, including intravenous pyelogram and angiography, were normal. Plasma renin activity (2.5 ng/ml/hr) was also normal. Total body CT scan was negative for phaeochromocytoma, and repeated estimations of 24-hour excretion of urinary VMA were normal or borderline high. Levels of total catecholamines in 24-hour urine were normal twice, but two random specimens during the paroxysmal episodes contained abnormally high levels of norepinephrine and dopamine. Plasma catecholamine concentrations were increased but not as high as with phaeochromocytoma. Blood pressure monitoring demonstrated marked fluctuations with position and temperature. A clonidine suppression test showed a substantial fall of plasma catecholamine levels, consistent with dysautonomia and not with phaeochromocytoma. It is concluded that the patient has dysautonomia of central origin, probably as a manifestation of Friedreich's ataxia. These findings are discussed in relation to the recent demonstration of increased levels of plasma catecholamines in that disease.
 ...
PMID:Friedreich's ataxia with dysautonomia and labile hypertension. 670 98

A 67 years old man was admitted on July 1979 for nausea, dysphagia and rectal pain. At age 64 he had undergone radiotherapy on the lower lip for an epidermoid carcinoma. He remained then healthy. His medical history was negative with the exception of chronic bronchitis. He had never been exposed to toxic agents or drugs and had never left Europe. A few days after admission he suffered acute intestinal obstruction but at laparostomy no etiology was found. At the same time the patient complained of pain in all four limbs and he was found to have diffuse wasting of muscles, areflexia and distal sensory loss. No sign of dysautonomia was present. Physical examination was negative with the exception of a cervical lymphadenopathy. The lymph node biopsy showed an undifferentiated metastatic carcinoma. Negative investigations included: blood cells count; serum ionogram and immunoelectrophoresis; thyroid function tests; serological test for Chagas' disease. The following abnormalities were found: ESR: 55-105; CSF protein: 145 mg/100 ml and 1 cell mm3; whole blood folic acid: 1,7 mg/ml; Hbs antigen was present in blood; EMG showed evidence of denervation but motor conduction velocities were normal. By September the patient's weakness had increased and complete intestinal obstruction persisted. At oesophageal, gastric and duodenal fibroscopy no contraction was visible, and biopsies were negative. The patient died of peritonitis on October 5th, 1979. At necropsy peritonitis secondary to multiple perforation of the large bowel was found. No recurrence of the lip carcinoma or metastase or evidence of a primary carcinoma was found. Light microscopy showed no evidence of amyloidosis or scleroderma. Examination of the alimentary tract showed abnormalities restricted to the myenteric plexuses which varied from one level to another. In the small bowel there was hyperplasia of the smooth muscle and the myenteric plexuses were enlarged by marked proliferation of Schwann cells. Severe neuronal loss and nodules of Nageotte were also noted. Schwann cells proliferation was less marked in the stomach and large bowel. Lympho-histiocytic infiltration strictly confined to the region of the myenteric plexuses was present in oesophagus, stomach, large bowel and rectum. Mild chronic inflammatory lesions were also found in anterior and posterior spinal roots and semi-lunar ganglia. The striking feature of this case is the association of an undifferentiated carcinoma and a polyradiculoneuritis with a complete alimentary tract palsy of rapid onset, secondary to lesions restricted to the myenteric plexuses. The low folate level was insufficient to explain the neuropathy. Investigations showed no evidence of the usual causes of intestinal pseudo-obstruction: muscular, dysautonomic, toxic, plexic (idiopathic, familial, inflammatory), Chagas' disease). The clinical course, the pathological pictures of the alimentary tract and spinal roots and the association with a carcinoma suggest that our case may represent a paraneoplastic syndrome...
 ...
PMID:[Paralysis of digestive tract with lesions of myenteric plexuses. A new paraneoplastic syndrome (author's transl)]. 729 42

Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a predominately childhood condition associated with migraine and dysautonomic features. Disease-associated mitochondrial DNA (mtDNA) sequence variants are suggested by a strong maternal bias in the inheritance of migraine, and the recent findings of mtDNA variants in a few children with CVS and additional neuromuscular disease manifestations ("CVS+"). A clinical interview using a questionnaire was administered (generally) to one parent of 62 children with CVS+. Non-senile disease manifestations, including migraine, myopathy, seizures, and dysautonomia-like symptoms, were far more common in matrilineal versus non-matrilineal relatives, including being present in 75% of the mothers versus in only 11% of the fathers (P < 0.001). Overall, maternal inheritance is suggested in 86% of the families (in 65% strongly so). Disease manifestations in subjects and their affected matrilineal relatives are predominately intermittent and consistent with dysautonomia, including increased vital sign fluctuations. Body fluid metabolites and muscle biopsy findings are consistent with mitochondrial dysfunction in most cases tested. We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this "severe" end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia.
 ...
PMID:Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease. 1288 25

Coeliac disease is associated with numerous neurological manifestations including cerebellar ataxia, myelopathy, myopathy, and peripheral neuropathy. This report describes four patients who presented subacutely with presyncope and postural nausea. All four patients had biopsy proven coeliac disease with dysautonomia present on autonomic evaluation. These four patients comprised 2.4% of patients referred for autonomic testing in one year. Thus the frequency of coeliac disease is similar to that reported in idiopathic peripheral neuropathy.
 ...
PMID:Autonomic neuropathy and coeliac disease. 1577 51

Cyclic vomiting syndrome, which is characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a fairly common, disabling, predominately childhood condition. Approximately 25% of cases have coexisting neuromuscular disease manifestations (cyclic vomiting syndrome plus). To determine whether patients with cyclic vomiting syndrome and neuromuscular disease represent a distinct subentity within cyclic vomiting syndrome, a clinical interview was conducted regarding 80 randomly ascertained sufferers of cyclic vomiting syndrome from a disease association database. Cyclic vomiting syndrome plus and "cyclic vomiting syndrome minus," herein defined as the presence of at least two and zero neuromuscular disease manifestations, were present in 23 and 44 subjects, respectively. Neuromuscular disease manifestations, including cognitive disorders, skeletal myopathy, cranial nerve dysfunction, and seizure disorders, were found to statistically cluster together among the same subjects. In addition, subjects with cyclic vomiting syndrome with neuromuscular disease had an earlier age at onset for vomiting episodes and a three- to eightfold statistically increased prevalence for certain dysautonomia-related (migraine, chronic fatigue, neurovascular dystrophy) and constitutional (growth retardation and birth defects) disorders. However, subjects with cyclic vomiting syndrome with and without neuromuscular disease were equally likely to have a sibling affected with neuromuscular disease manifestations. We conclude that cyclic vomiting syndrome plus, although likely not genetically distinct from cyclic vomiting syndrome minus, represents a distinct phenotypic entity that predicts an earlier onset of disease and increased comorbidity with a distinct list of medical conditions, possibly owing to a higher degree of mitochondrial dysfunction.
 ...
PMID:Cyclic vomiting syndrome plus. 1690 17

Parkinson's disease (PD) occurs with an annual incidence of 13/100.000, is slightly more frequent in men and is characterized by the motor symptoms tremor, rigidity, bradykinesia and postural instability. In addition, non-motor symptoms have been increasingly connected to the disease although already described in James Parkinson's 'Essay on the shaking palsy' from 1817. The motor symptoms in PD are related to the degeneration of dopaminergic cells in the substantia nigra (SN). These symptoms respond well to dopaminergic substitution. It is much more unclear whether non-motor symptoms like dysautonomia, insomnia, day-time sleepiness, fatigue, pain and neuropsychiatric symptoms respond to levodopa. Autonomic symptoms include dizziness because of orthostatic hypotension, constipation, nausea, voiding symptoms and increased sweating. Such symptoms as well as sensory symptoms like hyposmia and pain are very frequently reported in PD and seem to occur early in the disease process. Braak proposed a sequential model of neuropathology in PD starting with affection of the olfactory bulb and the autonomic innervation of the heart and gut. Affection of SN is seen from Braak stage 3, and limbic and cortical structures are affected in the later stages of the disease. Currently, the evidence for sensory and autonomic involvement in PD is reviewed with special focus on the early phase of the disease.
 ...
PMID:Are dysautonomic and sensory symptoms present in early Parkinson's disease? 2058 40

Postural orthostatic tachycardia syndrome (POTS) is a relatively rare syndrome recognised since 1940. It is a heterogenous condition with orthostatic intolerance due to dysautonomia and is characterised by rise in heart rate above 30 bpm from base line or to more than 120 bpm within 5-10 min of standing with or without change in blood pressure which returns to base line on resuming supine position. This condition present with various disabling symptoms such as light headedness, near syncope, fatigue, nausea, vomiting, tremor, palpitations and mental clouding, etc. However there are no identifiable signs on clinical examination and patients are often diagnosed to have anxiety disorder. The condition predominantly affects young female between the ages of 15-50 but is rarely described in older people. We describe an older patient who developed POTS which recovered over 12 mo. Recognising this condition is important as there are treatment options available to alleviate the disabling symptoms.
...
PMID:Reversible postural orthostatic tachycardia syndrome. 2624 58