Gene/Protein Disease Symptom Drug Enzyme Compound
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Mastocytosis refers to a rare collection of disorders, both cutaneous and systemic, that are characterized by increased numbers of mast cells. Depending on the extent of the disease, these disorders may present with symptoms resulting from mast cell degranulation including flushing, diarrhea, vomiting, cramping, syncope, or anaphylaxis. In pediatric patients, cutaneous involvement is most prevalent in the form of urticaria pigmentosa, which is typically asymptomatic or minimally so with resolution by adolescence. In this case report and review of literature, we review a case of a 3-year-old child with uritcaria pigmentosa displaying recurrent syncope and anaphylaxis as the first presentation of systemic mastocytosis. We found data to be limited on this topic, and concluded that pediatric patients with prior diagnoses of cutaneous mastocytosis could benefit from either more aggressive screening for systemic disease or prophylactic treatment with antihistamines and rescue subcutaneous epinephrine.
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PMID:Recurrent syncope and anaphylaxis as presentation of systemic mastocytosis in a pediatric patient: case report and literature review. 1663 42

Currently, autologous peripheral stem cell transplantation used as a therapeutic modality in the treatment of various hematological malignancies is gaining more popularity day by day. In this method, the patient's own peripheral stem cells are collected by a proper method and stored at -80 degrees C until they are reinfused into the patient after being rewarmed in water bath at 37 degrees C. A number of complications have been reported related to reinfusion of the cryopreserved cells into the patient. These may include noncardiovascular complications such as nausea, vomiting, flushing, abdominal pain, chest discomfort, and headache, as well as cardiovascular complications like arrhythmias, hypotension, and hypertension. Hypothermia related to rapid infusion has been reported as the main factor underlying the cardiovascular complications. Electrocardiographic findings of hypothermia include sinusal bradycardia, prolonged QT and PR intervals, widened QRS complexes, and J wave, which is a ECG abnormality characterized by supraventricular and ventricular arrhythmias. We here present two cases of giant J wave caused by hypothermia during infusion of cryopreserved autologous peripheral stem cell that is detected by ECG and regressed after infusion ceased.
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PMID:Hypothermia during the infusion of cryopreserved autologous peripheral stem cell causes electrocardiographical changes: report of two cases. 1690 91

The reported incidence of hypersensitivity reactions (HSRs) associated with oxaliplatin in patients with colorectal cancer (CRC) is approximately 12%, with 1 - 2% of patients developing grade 3 or 4 in severity. However, the recent rising incidence of HSR to oxaliplatin observed is the result of increasing clinical use. HSR to oxaliplatin may manifest as facial flushing, rash/hives, tachycardia, dyspnoea, erythema, pruritus, fever, tongue swelling, headache, chills, weakness, vomiting, burning sensations, dizziness and oedema. Anaphylactic shock is rare but serious, and must be considered in the event of hypotension. No definitive approaches to prevent and treat HSR associated with oxaliplatin are available; however, few successful strategies have been reported. Such strategies include: slowing the infusion rate, use of steroids and antagonists of type 1 and 2 histamine receptors, and desensitisation. Successful implementation of oxaliplatin desensitisation protocols based on other platinum-containing compounds have been reported, which could enable a small number of patients who experience severe HSR to further receive an effective therapy for CRC. However, reintroductions have only been reported as single case studies or small cohorts. Large-scale validation on desensitisation strategies are still missing. Recently, subcutaneous adrenaline has also been utilised as an alternative approach to manage HSR to oxaliplatin. Knowledge of this rare but real toxicity of oxaliplatin is paramount because the use of this drug continues to increase not only for the treatment of patients with stage II-IV CRC, but also other solid malignancies. In this article, the author discusses the incidence, clinical presentation, pathogenesis, risk factors and current strategies of management of HSR associated with oxaliplatin.
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PMID:Hypersensitivity reactions associated with oxaliplatin. 1690 58

The authors report their experience with a case of double duodenum carcinoid tumors occurring in a 59-year-old female patient. She presented with a one-year history of frequent abdominal painful episodes, associated with dyspepsia, emesis, pyrosis, eructation, skin flushing and easy strain. The laboratory examinations point out high hematic values of serotonin and gastrin, with a raising of urinary 5-HIAA. Preoperative endoscopic examinations showed the presence of 2 little sessile polypoid growths, placed in the duodenal bulb, one of this interested muscular tunic. The patient underwent Billroth I resection and was discharged on postoperative day 8. The authors after a little dissertation on that topic, go on to examine the current diagnostic and therapeutic possibilities. They confirm the elective role of surgical treatment of these rare tumors.
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PMID:[Neuroendocrine tumors. A rare case of duodenal carcinoids]. 1699 60

A 41-year-old woman presented with a 2-month history of pruritus and a generalized dermatitis that developed initially on the head and spread to the trunk, legs, and buttocks. The pruritus caused extreme discomfort and was not relieved by antihistamines or topical steroid treatment. The patient denied flushing, syncope, and vomiting. Her medical history included asthma treated with salmeterol/fluticasone propionate inhaler, and status post silicone breast augmentation. Physical examination revealed a papular dermatitis on the trunk and extremities composed of lesions up to 0.5 cm in diameter, surrounded by excoriation marks (Figure 1). There was no hepatosplenomegaly or lymphadenopathy. Darier's sign was negative. Results of complete blood count, peripheral blood film examination, and liver function tests were all with normal limits. A biopsy specimen taken from a lesion and stained with hematoxylin-eosin showed telangiectasias, with an increased number of mast cells around blood vessels (Figure 2). Positive Giemsa (Figure 3) and c-kit stain (Figure 4) indicated an increased number of mast cells. Bone marrow aspiration and total body CT performed to rule out systemic involvement showed no pathology. Protein electrophoresis was normal. Serum tryptase and histamine were within normal limits, and 24-hour urine collection for histamine was normal. Narrow-band UV-B treatment was begun 3 times weekly, reduced to twice weekly after 2 months, and then stopped. The first few treatments resulted in significant relief of the pruritus and regression of lesions. After 3 months without treatment, the patient remained free of pruritus and lesions.
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PMID:Telangiectasia macularis eruptiva perstans: unusual presentation and treatment. 1708

The clinical symptoms of migraine are widely accepted to be related to the involvement of the autonomic nervous system, and especially to dysfunction in the regulation of the circulatory system and autonomic balance. Disturbance of the autonomic nervous system is a primary characteristic of migraine Therefore, patients with migraine have a variety of symptoms, such as vasodilatation (flushing), pilo-erection, nausea, vomiting, diarrhea, cutaneous vasoconstriction (pallor), and diaphoresis. The electrocardiographic changes seen during a migraine attack compared with the pain-free period could be secondary to reversible disturbances of the state of autonomic innervation of the heart and coronary arteries. Dysfunction of ANS may affect atrial and ventricular repolarization. For instance, increased sympathetic activity causes sinus tachycardia, but increased parasympathetic activity causes sinus bradycardia, atrioventricular block, and ST-segment and T-wave abnormalities. Comprehensive electrocardiographic analyses have been providing more details in terms of the detection of abnormalities in atrial and ventricular repolarization which potentially may result in arrhythmias in patients with migraine. However, there is no information in literature reporting the frequency of cardiac arrhythmias in migraine patients who had cardiac repolarization abnormalities. In this review, detailed electrocardiographic findings and their relation with the autonomic nervous system, including recent observations, have been evaluated. However, further studies are needed to investigate the association between autonomic dysregulation and cardiac repolarization abnormalities in patients with migraine.
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PMID:Autonomic dysfunction and cardiac repolarization abnormalities in patients with migraine attacks. 1732 46

Hypersensitivity reactions (HSR) to oxaliplatin in patients with colorectal cancer include facial flushing, erythema, pruritus, fever, tachycardia, dyspnea, tongue swelling, rash/hives, headache, chills, weakness, vomiting, burning sensations, dizziness, and edema. We report a patient with fever as the sole manifestation of initial HSR, review the literature and discuss the management of HSR. A 57-year-old female with T3N2M0 rectal adenocarcinoma received modified FOLFOX-6. She tolerated the first 8 cycles without any toxicities except grade 1 peripheral neuropathy and nausea. During 9th and 10th infusions, she developed fever to a maximum of 38.3 centigrade with stable hemodynamic status despite medications. During 11th infusion, she developed grade 3 HSR consisting of symptomatic bronchospasm, hypotension, nausea, vomiting, cough, and fever. On examination, she was pale, cyanotic, with a temperature of 38.8 centigrade, BP dropped to 95/43 mm Hg, pulse of 116/min and O(2) saturation of 88%-91%. She was hospitalized for management and recovered in 24 h. Fever alone is not a usual symptom of oxaliplatin HSR. It may be indicative that the patient may develop serious reactions subsequently, as did our patient who developed hypotension with the third challenge. Treatment and prevention consists of slowing the infusion rate, use of steroids and antagonists of Type 1 and 2 histamine receptor antagonists, whereas desensitization could help to provide the small number of patients who experience severe HSR with the ability to further receive an effective therapy for their colorectal cancer.
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PMID:Fever as the only manifestation of hypersensitivity reactions associated with oxaliplatin in a patient with colorectal cancer Oxaliplatin-induced hypersensitivity reaction. 1787 1

Prostaglandin E1 (PGE1) is widely used in neonates with cyanotic congenital heart disease who depend on the patency of the ductus arteriosus for oxygenation. Side effects of prostaglandin therapy are common and include respiratory depression, generalized flushing, and cardiovascular and neurological effects. Little is known about the complex effects on the gastrointestinal tract. We report on an infant with gastric outlet obstruction after long-term prostaglandin administration. At the age of 1 month, feeding problems developed with projectile vomiting. Ultrasonography showed progressive elongation of the antropyloric channel without wall thickening, which was causing gastric outlet obstruction. Three days after cardiac surgery and cessation of prostaglandin therapy, the infant fed normally and rapidly gained weight. The clinical signs in such patients can mimic hypertrophic pyloric stenosis. Therefore, the sonographic findings should not be confused with pyloric wall thickening to avoid a false diagnosis and unnecessary surgery. The symptoms diminish with cessation of the prostaglandin therapy after a corrective cardiac operation.
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PMID:Gastric outlet obstruction after long-term prostaglandin administration mimicking hypertrophic pyloric stenosis. 1796 95

Although the reported incidence of hypersensitivity reactions (HSR) to antineoplastic agents is considered to be uncommon, it is difficult to evaluate their exact prevalence, mainly because their definition is vast and pathogenic mechanisms are vague. HSR include facial flushing, erythema, pruritus, fever, tachycardia, dyspnea, tongue swelling, rash/hives, headache, chills, weakness, vomiting, burning sensations, dizziness, and edema. Treatment and prevention consists of slowing the infusion rate, steroids, and type 1 and 2 histamine receptor antagonists. Desensitization could allow the small number of patients who experience severe HSR to receive effective therapy for their cancer. Reintroductions have only been reported as single case studies or small cohorts. Large-scale validation on desensitization strategies is still missing. With regard to oxaliplatin, knowledge of its rare but eminent toxicity is paramount, because this drug is widely used in treating colorectal cancer, the second-highest cause of cancer mortality in the United States.
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PMID:Hypersensitivity reactions to oxaliplatin and other antineoplastic agents. 1837 76

Systemic mastocytosis (SM) is a rare disease with abnormal proliferation and infiltration of mast cells in the skin, bone marrow, and viscera including the mucosal surfaces of the digestive tract. Gastrointestinal (GI) symptoms occur in 14%-85% of patients with systemic mastocytosis. The GI symptoms may be as frequent as the better known pruritus, urticaria pigmentosa, and flushing. In fact most recent studies show that the GI symptoms are especially important clinically due to the severity and chronicity of the effects that they produce. GI symptoms may include abdominal pain, diarrhea, nausea, vomiting, and bloating. A case of predominantly GI systemic mastocytosis with unique endoscopic images and pathologic confirmation is herein presented, as well as a current review of the GI manifestations of this disease including endoscopic appearances. Issues such as treatment and prognosis will not be discussed for the purposes of this paper.
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PMID:Gastrointestinal manifestations of systemic mastocytosis. 1905 39


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