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

We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition.
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PMID:Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. 997 97

A case of erythropoietic protoporphyria associated with severe hepatic dysfunction and acute pancreatitis is reported. The patient, a 33-year-old man, was admitted to our hospital complaining of upper abdominal pain, nausea, and vomiting of 3 days' duration. Laboratory tests on admission demonstrated liver dysfunction, anemia, and thrombocytopenia. On the third hospital day, the intensity of the upper abdominal pain increased, concomitantly with elevated levels of serum amylase. Ultrasonography and computed tomography scanning revealed a slightly enlarged pancreas. During this episode, he also complained of various neurological symptoms, including reduced mental alertness, weakness of extremities, constipation, profound sweating, and urinary retention. Porphyrin studies demonstrated markedly elevated erythrocyte and fecal protoporphyrin levels. Laparoscopic findings obtained after the attack subsided were compatible with porphyric liver cirrhosis. We therefore concluded that neurologic disorders and acute pancreatitis could develop in patients with erythropoietic protoporphyria with severe liver dysfunction.
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PMID:Erythropoietic protoporphyria with severe liver dysfunction and acute pancreatitis. 1083 76

Copper deficiency (normal serum copper level: 78-136 micrograms/dl) has been reported in patients with long-term enteral nutrition, caused by a copper deficit in enteral nutrition. Occasionally, this leads to anemia and leukopenia. We used Hershey's pure cocoa that is rich in copper (content 3.8 mg/cocoa 100 g) for copper deficiency. A total of 86 (40 men and 46 women, mean age 69 years) patients on enteral nutrition were studied. The primary diseases were cerebral vascular disease in 71 patients, neurological disease in 5 and others in 10. Those who showed serum copper levels of 20 micrograms/dl or less (N = 8) were given 30-45 g of cocoa (copper content 1.14-1.71 mg) per day for about 40 days. Among them, two patients could not continue because of vomiting and diarrhea and were excluded from this study. Mean serum copper levels increased from 8.7 +/- 6.2 to 99.0 +/- 25.4 micrograms/dl (N = 6). Those who showed serum copper levels 20-77 mg/dl (N = 31) were given 10 g of cocoa (copper content 0.38 mg) per day for about 40 days. When mean serum copper levels increased from 50.5 +/- 19.3 to 89.0 +/- 12.9 micrograms/dl with cocoa administration, anemia and neutropenia caused by copper deficiency showed a tendency to improve. After completing the study period, cocoa was reduced to 5 g (copper content 0.19 mg) per day in 23 patients. The mean serum copper levels increased from 90.7 +/- 10.4 to 100.6 +/- 17.1 micrograms/dl for about 100 days. Recently, the amount of daily copper requirement for adults has been reported to be 1.28-2.5 mg per day. We showed that 10 g of cocoa (0.6 mg total copper: 0.38 mg in cocoa and 0.22 mg in other nutrients) is sufficient to treat copper deficiency, and 5 g of cocoa (0.37 mg total copper: 0.19 mg in cocoa and 0.18 mg in other nutrients) is enough to maintain the normal level of serum copper in patients with long-term enteral nutrition.
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PMID:[Copper supplement with cocoa for copper deficiency in patients with long-term enteral nutrition]. 1091 28

Rumination is an unusual gastrointestinal symptom that is characterized by the repetitive regurgitation of gastric contents into the oropharynx. The regurgitation occurs very soon after a meal and tends to persist for 1 to 2 hours. Rumination is defined by the setting in which it occurs. It is seen in three distinct populations: infants; individuals with psychiatric and neurologic disorders, particularly developmental disabilities; and adults who do not have overt psychiatric or neurologic disorders. The hallmark of rumination, which separates it from other disorders of the upper gastrointestinal tract (such as gastroesophageal reflux disease or cyclic vomiting syndrome), is the fact that in patients with rumination, the gastric contents appear in the oropharynx without retching or nausea. Rather, the patient makes a conscious decision on how to handle the regurgitated material after it presents into the oropharynx. The regurgitated meal usually consists of undigested or partially digested food. The regurgitation is effortless or at most is preceded by a sensation of belching immediately prior to the regurgitation itself. The management of patients with rumination needs to be accomplished in a highly individualized manner. Children with infant rumination syndrome often have symptoms related to significant defects in bonding with their mother. Thus, problems of mother-child bonding in pediatric patients with rumination syndrome should be identified and appropriately addressed. The management of adult patients with developmental disabilities or neurologic impairments who ruminate focuses mainly on behavioral modalities, including adversive conditioning and contingency management. The healthy adult who ruminates and has no evidence of neurologic or developmental disability is best seen as someone with a habit. Management in these patients is directed towards adjunctive therapies (ie, the use of proton pump inhibitors or H(2 )receptor antagonists to decrease acid injury to the esophagus) as well as identifying situations and emotions that trigger the patient's symptoms. Randomized controlled trials of various treatment modalities need to be undertaken; likewise, the evaluation strategy needed to best diagnose rumination is yet to be well defined. At this time, the challenge for gastroenterologists is to understand the nature of rumination, to identify individuals at high risk, and to use the management strategies most associated with good outcomes in patients with rumination in various clinical settings.
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PMID:Rumination. 1146 94

A 14-year-old girl with superior mesenteric artery (SMA) syndrome associated with hereditary motor and sensory neuropathy (HMSN) type II is reported. The initial presentations of HMSN type II were developmental delay and gait disturbance at 2 years of age. All deep tendon reflexes were absent. Nerve conduction velocities and left sural nerve biopsy all revealed axonal changes. Recently, she suffered from intermittent bilious vomiting and epigastralgia for 6 months. That caused body weight loss from 40 kg to 28 kg. Abdominal echography showed narrowed superior mesenteric artery angle. Upper gastrointestinal series revealed obstruction of third portion of duodenum. Accordingly, SMA syndrome was diagnosed. To the best of our knowledge, this case is the first report of SMA with HMSN type II in the world. When a child with chronic neurological disease presents with intermittent vomiting, SMA should be considered as a disease entity of differential diagnosis.
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PMID:Superior mesenteric artery syndrome associated with hereditary motor and sensory neuropathy type II--a case report. 1184 52

The cyclic vomiting syndrome is defined by episodes of vomiting lasting from hours to days with free intervals between episodes. Various symptoms can be associated with vomiting: nausea, abdominal pain, photophobia, fever, pallor, dehydratation, excess salivation, social withdrawal. Some factors often precipitate the crisis: infection, psychological stresses, menstruation. Excluding a medical condition, especially a gastro-intestinal or a neurological disease is compulsory for the diagnostic of cyclic vomiting syndrome. The cyclic vomiting syndrome shares many common features with migraine including treatment. Due to negative paraclinical testing, a psychiatric disease is often suspected in these children. Pathophysiology of cyclic vomiting syndrome is unknown. As for migraine, mitochondrial and ionic channels abnormalities are thought to play a role. Overactivation of hypothalamic-pituitary-adrenal axis and autonomic dysfunction seem to be involved too. Three clinical vignets will illustrate these aspects.
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PMID:[On the subject of the cyclic vomiting syndrome]. 1281 70

Opsoclonus is characterized by sudden onset of arrhythmic, multidirectional chaotic eye movements, generally associated with a parainfectious or paraneoplasic condition. Opsoclonus is a rare manifestation with no known link with infection by Mycoplasma pneumoniae. We present a case of a 23 year old male patient who presented fever, myalgia, vomiting, respiratory failure, opsoclonus and symmetric flaccid tetraparesis with important lower limb muscle atrophy. Serology and seroreversion for M. pneumoniae were both positive. This case illustrates the possibility that M. pneumoniae may produce a predominantly neurological disease and the need to include this infection in the differential diagnosis of opsoclonus, or polyradiculoneuritis.
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PMID:[Opsoclonus secondary to encephalopolyradiculoneuritis due to Mycoplasma pneumoniae]. 1498 84

Approximately 4% of children experience febrile seizures, making it one of the most common childhood neurologic disorders. Most incidences occur between six months and three years of age, and 30%-40% of these children will experience a recurrence. The priorities in emergent management of pediatric seizures are airway maintenance, seizure termination and correction of reversible causes. When a child experiences a febrile seizure, gradual passive cooling will assist the child in terminating it. The exact cause of febrile seizures is still uncertain, but studies seem to suggest that the height of the fever is less of a factor than the rapidity of its rise. In other words, a child is more likely to seize if his or her temperature rises rapidly, even if it reaches a lower maximum temperature. The same child may slowly increase his/her temperature to a higher maximum without suffering a seizure. In this case, the patient obviously had a respiratory infection that was the source of the fever. It is important to reassure the parents in such a case of the benign nature of febrile seizures and that less than 5% of children experiencing them will develop a seizure disorder. The seizure in this case was terminated with i.v. Atvan, a drug that has been shown to work well as an anticonvulsant in children. But in most circumstances, a febrile seizure will end spontaneously or with gentle cooling. Either acetaminophen or ibuprofen can be given to treat the fever, and rectal forms of these medicines are preferred in the early treatment phase. Oral forms of the medicine can be administered after the child has stopped seizing and is not vomiting. The child should be exposed to a cooler, but not cold, environment, and the airway supported. Tepid baths can help to bring down a fever, but alcohol rubdowns or any fast cooling measures should be avoided because they may induce shivering and further elevate the fever.
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PMID:Handle with care. 1532 70

Neurocysticercosis is a major cause of neurologic disease worldwide. The clinical presentations are pleomorphic depending on the stage and location of cysts in the nervous system. Most children (> 80%) present with seizures, particularly partial seizures; headache and vomiting are seen in about a third of cases. Diagnosis is made by either computed tomography (CT) or magnetic resonance imaging. Single enhancing lesions are the most common finding. Visualization of a scolex confirms the diagnosis. Some cases have multiple cysts; the "starry-sky" appearance in cases with innumerable cysts is characteristic. Most children require anticonvulsants. Corticosteroids are indicated in those with cerebral edema. The efficacy of cysticidal therapy continues to be debated. Controlled studies suggest that cysticidal therapy helps in increased and faster resolution of CT lesions, but there is no conclusive evidence that it improves long-term seizure control. The prognosis in cases with single lesions is good; seizure control is achieved with a single anticonvulsant, and the recurrence rate is low. Children with multiple lesions have recurrent seizures. Extraparenchymal neurocysticercosis is rare in children and carries a poor prognosis. Neurocysticercosis must be considered in the differential diagnosis of seizures and a wide variety of neurologic disorders, particularly in endemic areas.
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PMID:Neurocysticercosis in children. 1552 51

The 13C-octanoic acid breath test is considered a useful tool to measure gastric emptying both in physiological and pathological conditions. Many studies have concerned functional dyspepsia. Recently, breath test has been used in predicting a delayed gastric emptying in subsets of dyspeptic symptoms. In detail only postprandial fullness and vomiting are resulted significantly correlated with delayed solid emptying. Besides in the patients with dyspepsia and irritable bowel syndrome associated, intestinal disturbances did not seem to contribute to delay gastric emptying. In diabetic patients octanoate test has confirmed the percentages of delayed emptying obtained by means of scintigraphy. In other organic states (celiac disease, cirrhosis, renal failure, neurological disease, etc) most of reports have proved a delayed emptying of solids. In GERD and ulcer disease gastric function is resulted normal, being accelerated in distal gastrectomy and in hyperemesis gravidarum. From pathophysiological point of view Helicobacter pylori, extrinsic autonomic neuropathy (apart from diabetes) and autoimmunity do not seem to relate with gastric emptying, both in functional and organic disease.
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PMID:13C-octanoic acid breath test in functional and organic disease: critical review of literature. 1645 24


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