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)

Mastocytosis is a rare disease of mast-cell proliferation with involvement of the reticuloendothelial systems including skin, bone, gastrointestinal tract, liver, lungs, spleen, and lymph nodes. Systemic mastocytosis is characterized by a combination of symptoms that relate to the mast cells' release of vasoactive substances, such as histamine. These symptoms include urticaria pigmentosa, flushing, syncope with hypotension, headaches, nausea, vomiting, diarrhea, and occasional bronchospasm. The diagnosis of mastocytosis is typically based on the presence of the characteristic extraosseus manifestations. A well recognized roentgenographic feature seen in 70-75% of patients with mastocytosis is diffuse osteolysis and osteosclerosis, affecting primarily the axial skeleton and the ends of the long bones. Rarely, the bony involvement consists of generalized osteoporosis, which may lead to pathologic fracture, or solitary lesions (mastocytomas) which may cause symptoms of localized pain. Four patients with previously diagnosed systemic mastocytosis had unusual skeletal lesions. Clinical and laboratory evaluation of these patients eventually led to the correct diagnosis of systemic mastocytosis. We report these four cases to emphasize the need for thorough evaluation of unusual musculoskeletal findings in association with extraosseus symptoms that are characteristic of mastocytosis. Knowledge of a wide differential diagnosis of unusual skeletal lesions should include systemic mastosytosis.
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PMID:Mastocytosis presenting as a skeletal disorder. 912 84

Bulimia nervosa is a common eating disorder, affecting between 1% to 10% of adolescent girls and college aged women. Because excessive weight loss and amenorrhea are not significant features, as they are in anorexia, bulimia is much harder to diagnose. Orthopaedic surgeons have a unique opportunity to detect one of the few physical signs of the disease, which is skin lesions, consisting of abrasions, small lacerations, and callosities on the dorsum of the hand overlying the metacarpophalangeal and interphalangeal joints. These nondescript dorsal lesions are caused by repeated contact of the incisors to the skin of the hand that occur during self induced vomiting. This finding, known as Russell's sign, may be seen by orthopaedic surgeons during examinations for other reasons. Because eating disorders are recognized as a component of the female athlete triad of osteoporosis, amenorrhea, and eating disorders and because orthopaedic surgeons routinely care for female athletes susceptible to these disorders, recognizing this sign and its implications may have profound influence on the patient's musculoskeletal system and general health.
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PMID:Russell's sign. Subtle hand changes in patients with bulimia nervosa. 934 15

Alendronate is indicated for the treatment of osteoporosis in post-menopausal women. Although the drug has been associated with reports of severe oesophagitis, there have been no studies establishing the incidence of such reactions. Information was collected on 1523 patients included in a study conducted by means of prescription-event monitoring. Dyspepsia, nausea/vomiting, and abdominal pain were the most frequently reported events in the first month of treatment. After follow-up, 20 patients (1.3%) experienced oesophageal events that were considered to be possibly related to alendronate.
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PMID:United Kingdom experience with alendronate and oesophageal reactions. 966 93

Lysinuric protein intolerance (LPI, MIM 222700) is an autosomal recessive multisystem disorder found mainly in Finland and Italy. On a normal diet, LPI patients present poor feeding, vomiting, diarrhoea, episodes of hyperammoniaemic coma and failure to thrive. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. LPI is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine and orotic aciduria. The gene causing LPI was assigned using linkage analysis to chromosome 14q11.2 near the T-cell receptor alpha/delta chains locus, and a critical region has been defined. We have identified two new transcripts (SLC7A8 and SLC7A7) homologous to amino acid transporters, highly expressed in kidney and mapping in the LPI critical region. Mutational analysis of both transcripts revealed that SLC7A7 (for solute carrier family 7, member 7) is mutated in LPI. In five Italian patients, we found either an insertion or deletion in the coding sequence, which provides evidence of a causative role of SLC7A7 in LPI. Furthermore, we detected a splice acceptor change resulting in a frameshift and premature translation termination in four unrelated Finnish patients. This mutation may represent the founder LPI allele in Finland.
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PMID:SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. 1008 Jan 83

From January 1994 until May 1997, 54 children with leukemia and non Hodgkin lymphoma were analyzed. The enzymatic function and ultrasound examination of pancreas were estimated. In 17 of 54 patients the clinical symptoms suggesting pancreatitis or toxic lesion of pancreas were observed. In 13 cases L-asparaginase was administered. The main symptom of the pancreas disease was severe abdominal pain with vomiting. The typical ultrasound view of pancreatitis was observed in 4 cases, pancreas oedema was seen in 6 patients. The most serious course of pancreatitis was diagnosed in 3 children. Diabetes mellitus coexisted in two cases, in the third case osteoporosis was seen. Because of the toxic pancreas lesion in one patient the administration of L-asparaginase and cortical hormones was discontinued, in the remaining 2 children the therapeutic scheme was modified. In all 17 cases this side effect was completely reversible, as well as in 3 children with the most serious clinical course of pancreas lesions.
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PMID:[Clinical manifestation of toxic pancreas lesion in children with hematopoietic malignancies]. 1073 49

Pain relief for patients with osteoporosis is important to maintain mobility and facilitate physical therapy. Transdermal fentanyl may be useful but has not been studied systematically. Patients with at least one osteoporotic vertebral fracture requiring strong opioids were enrolled and received transdermal fentanyl. Treatment history, pain, ease of physical therapy, and quality of life were recorded at baseline and after 4 weeks. Of 64 patients enrolled, 49 completed the study; 12 withdrew because of adverse events, most commonly nausea, vomiting, or dizziness. Pain at rest and on movement decreased significantly from baseline to final assessment (mean scores 7.84 and 8.55, respectively, at baseline, falling to 3.56 and 4.50 after 4 weeks). Quality of life improved significantly, and 61% of patients were satisfied with the treatment. Ability to undergo physical therapy improved significantly. Transdermal fentanyl is useful for the treatment of severe back pain caused by osteoporosis.
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PMID:Transdermal fentanyl for the treatment of back pain caused by vertebral osteoporosis. 1221 66

Alendronate sodium is an aminobiphosphonate, an analog of inorganic pyrophosphate, indicated for the treatment of osteoporosis in post-menopausal women. We analyzed events reported in patients prescribed alendronate by general practitioners (GPs) in England. A non-interventional observational cohort study was conducted using the technique of prescription event monitoring (PEM). Exposure data were obtained from dispensed prescriptions issued between October 1995 and January 1997. Outcome data were obtained by sending questionnaires to prescribing GPs. The cohort comprised 11,916 patients. Events most frequently reported as suspected adverse drug reactions and reason for stopping alendronate were recognized gastrointestinal events listed in the Summary of Product Characteristics. These included nausea/vomiting, abdominal pain, dyspepsia, esophagitis and esophageal reflux. Events with the highest incidence density (ID(1) per 1000 patient months treatment) were dyspeptic conditions (32.2), nausea/vomiting (20.8) and abdominal pain (13.8). The term dyspeptic conditions included dyspepsia, esophagitis, esophageal reflux, duodenitis, gastritis and heartburn. Serious suspected adverse reactions possibly related to alendronate were single reports of angioedema, erythema multiforme, hypercalcemia and hypocalcemia. There were 540 deaths in this elderly cohort. This study suggests that alendronate appears to be well tolerated, though there may be risk of developing gastrointestinal side effects including esophagitis and esophageal ulcers.
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PMID:Pharmacovigilance study of alendronate in England. 1273 Jul 57

Raloxifene, a selective estrogen receptor modulator (SERM) licensed for the prevention of non-traumatic vertebral fractures in postmenopausal women at increased risk of osteoporosis, was launched in the UK in August 1998. The aim of the study was to monitor the safety of raloxifene prescribed in the primary care setting in England using prescription-event monitoring (PEM). Patients were identified by means of prescription data supplied by the Prescription Pricing Authority between September 1998 and November 2000. Demographic and clinical event data were collected from questionnaires posted to primary care physicians (GPs) at least 6 months after the date of the first prescription for each patient. Information on medical events, suspected adverse drug reactions (ADRs), reasons for stopping treatment, pregnancies, and causes of death was requested. Event rates [Incidence Densities (IDs): no. first reports /1000 patient-months of treatment] were calculated. Differences between IDs for events reported in month one (ID(1)) and months 2-6 (ID(2-6)) of treatment were examined. The cohort comprised 13,987 patients [median age 62 years (IQR 55,69); 99.8% female]. The major indication was osteoporosis (40.9%, n=5725). Flushing was the event with the highest ID in month 1 (22.8), reported most frequently by GPs as an ADR to raloxifene (67/461 reports) and as the reason for stopping (700/4592 reports). Events associated with starting treatment included flushing, malaise/lassitude, headache/migraine, nausea/vomiting, sweating, cramp, pain abdomen, dizziness, diarrhea, mastalgia and vaginal hemorrhage. Less common events reported during treatment included deep vein thrombosis (n=13), pulmonary embolism (n=13), thrombophlebitis (n=31) and visual disturbance (n=29). In this study, there were 122 (0.9%) confirmed deaths, of which 32 causes of death were unknown. This study shows that raloxifene is generally well tolerated when used in general practice in England. Potential signals of unrecognised ADRs requiring further evaluation included gastrointestinal adverse symptoms and vaginal hemorrhage. There were also a small number of reports of events associated with venous thromboembolism and visual disorders that require further investigation.
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PMID:Safety profile of raloxifene as used in general practice in England: results of a prescription-event monitoring study. 1530 82

Eating disorders are significant causes of morbidity and mortality in adolescent females and young women. They are associated with severe medical and psychological consequences, including death, osteoporosis, growth delay and developmental delay. Dermatologic symptoms are almost always detectable in patients with severe anorexia nervosa (AN) and bulimia nervosa (BN), and awareness of these may help in the early diagnosis of hidden AN or BN. Cutaneous manifestations are the expression of the medical consequences of starvation, vomiting, abuse of drugs (such as laxatives and diuretics), and of psychiatric morbidity. These manifestations include xerosis, lanugo-like body hair, telogen effluvium, carotenoderma, acne, hyperpigmentation, seborrheic dermatitis, acrocyanosis, perniosis, petechiae, livedo reticularis, interdigital intertrigo, paronychia, generalized pruritus, acquired striae distensae, slower wound healing, prurigo pigmentosa, edema, linear erythema craquele, acral coldness, pellagra, scurvy, and acrodermatitis enteropathica. The most characteristic cutaneous sign of vomiting is Russell's sign (knuckle calluses). Symptoms arising from laxative or diuretic abuse include adverse reactions to drugs. Symptoms arising from psychiatric morbidity (artefacta) include the consequences of self-induced trauma. The role of the dermatologist in the management of eating disorders is to make an early diagnosis of the 'hidden' signs of these disorders in patients who tend to minimize or deny their disorder, and to avoid over-treatment of conditions which are overemphasized by patients' distorted perception of skin appearance. Even though skin signs of eating disorders improve with weight gain, the dermatologist will be asked to treat the dermatological conditions mentioned above. Xerosis improves with moisturizing ointments and humidification of the environment. Acne may be treated with topical benzoyl peroxide, antibacterials or azaleic acid; these agents may be administered as monotherapy or in combinations. Combination antibacterials, such as erythromycin with zinc, are also recommended because of the possibility of zinc deficiency in patients with eating disorders. The antiandrogen cyproterone acetate combined with 35 microg ethinyl estradiol may improve acne in women with AN and should be given for 2-4 months. Cheilitis, angular stomatitis, and nail fragility appear to respond to topical tocopherol (vitamin E). Russell's sign may decrease in size following applications of ointments that contain urea. Regular dental treatment is required to avoid tooth loss.
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PMID:Dermatologic signs in patients with eating disorders. 1594 93

The presentation of cerebral palsy can be global mental and physical dysfunction or isolated disturbances in gait, cognition, growth, or sensation. It is the most common childhood physical disability and affects 2 to 2.5 children per 1,000 born in the United States. The differential diagnosis of cerebral palsy includes metabolic and genetic disorders. The goals of treatment are to improve functionality and capabilities toward independence. Multispecialty treatment teams should be developed around the needs of each patient to provide continuously updated global treatment care plans. Complications of cerebral palsy include spasticity and contractures; feeding difficulties; drooling; communication difficulties; osteopenia; osteoporosis; fractures; pain; and functional gastrointestinal abnormalities contributing to bowel obstruction, vomiting, and constipation. Valid and reliable assessment tools to establish baseline functions and monitor developmental gains have contributed to an increasing body of evidenced-based recommendations for cerebral palsy. Many of the historical treatments for this ailment are being challenged, and several new treatment modalities are available. Adult morbidity and mortality from ischemic heart disease, cerebrovascular disease, cancer, and trauma are higher in patients with cerebral palsy than in the general population.
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PMID:Cerebral palsy: an overview. 1641 71


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