Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 13-year-old girl with a history of 4 months of perianal skin lesions is described. Physical examination revealed three 0.5 I 1-cm red, swollen, fleshy, skin tags extending from the perianal area to the perineum (Fig. 1). The patient reported intermittent fever, diarrhea, and abdominal pain, and her body weight was below the third percentile for her age. Laboratory studies showed an erythrocyte sedimentation rate of 101 mm/h; hematocrit of 26%; white blood cell count of 9800/mm3; serum iron of 15 mg/L (normal value (NV), 60-160 mg/L); ferritin of 43.4 microg/L (NV, 12-150 microg/L); transferrin of 203 mg/100 mL (NV, 200-400 mg/100 mL); transferrin saturation of 6% (NV, 20-50%); hypoalbuminemia; negative purified protein derivative (PPD), cytomegalovirus (CMV), human immunodeficiency virus (HIV), venereal disease research laboratory (VDRL), and antinuclear antibody tests; and Toxoplasma titers of 1/16, Van de Kamer 1.67 g/day. A barium examination revealed marked irregularity of the descending colon, and a colonoscopy showed uneven areas of mucosal edema and pseudopolyps in the transverse and descending colon, associated with irregular thickening and stenosis. Histopathologically, large intestine and skin lesions consisted of noncaseating epithelioid and giant cell granulomas (Fig. 2). Cultures for acid-fast bacilli and fungi were negative, and under polarized light no foreign bodies were seen. Treatment with metronidazole (250 mg three times a day), prednisone (0.5 mg/kg/day), and acetylsalicylic acid (75 mg/kg/day) was moderately effective. Vitamin, folic acid, and iron supplements were also added.
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PMID:Perianal Crohn's disease. 1097 32

A 60-year-old man, although treated with antibiotics, suffered from a severe pyrexial illness of unknown origin, weight loss and intermittent abdominal pain. There was no history of diarrhea or common infections. Computed tomography and ultrasound imaging showed uncharacteristic multiple small lesions of the entire liver parenchyma. These lesions were histologically pyogenic abscesses. In addition, an unexpected, pronounced accumulation of iron pigment in hepatocytes and second degree fibrotic changes of the liver were detected. Serum iron and serum transferrin were low, but serum ferritin concentration and transferrin saturation were increased to the maximum. The demonstration of the cysteine-282-tyrosine mutation confirmed underlying primary hemochromatosis. Bacteriological cultures of the abscess material yielded Yersinia enterocolitica serotype O:3, while stool and blood cultures were negative. Antibiotic therapy with piperacillin/tazobactam and tobramycin was successful within a few days. A repeat CT scan and ultrasound imaging demonstrated complete regression of the pathologic liver morphology. The patient was discharged and treated with an orally administered fluoroquinolone for an additional 6 months. After this time the patient had no morphological residues of the infection except one enlarged lymph node near the portal vein but still was so weak that he was unable to work again. In conclusion, severe septic forms of yersiniosis are mainly found in patients with iron overload, due to a handicapped iron metabolism of the Yersinia bacteria. Mortality is high despite treatment.
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PMID:Yersinia enterocolitica infection with multiple liver abscesses uncovering a primary hemochromatosis. 1125 17

5-Aminolevulinic acid (ALA) is a heme precursor that accumulates in acute intermittent porphyria (AIP) due to enzymatic deficiencies in the heme biosynthetic pathway Its accumulation has been associated with several symptoms, such as abdominal pain attacks, neuromuscular weaknesses, neuropsychiatric alterations and increased hepatocellular carcinoma (HCC) incidence. The use of exogenous ALA to elevate porphyrin levels in tumor photodynamic therapy, adds further significance to ALA toxicology. Under ferritin mediated and metal catalyzed oxidation, ALA produces reactive oxygen species that can damage plasmid and isolated DNA in vitro, and increases the steady-state level of 8-oxo-7,8-dihydro-2'-deoxyguanosine in liver, spleen and kidney DNA and 5-hydroxy-2'-deoxycytidine in liver DNA of ALA-treated rats. The in vitro DNA damage could be partially inhibited by SOD, catalase, DTPA, mannitol and melatonin. ALA also promotes the formation of radical-induced base degradation products in isolated DNA. 4,5-Dioxovaleric acid, the final oxidation product of ALA, alkylates guanine moieties within both nucleoside and isolated DNA, producing two diastereoisomeric adducts. Dihydropyrazine derivatives of ALA generated by its dimerization, promote DNA strand-breaks and 8-oxodGuo formation in the presence of Cu2+. Together these results reinforce the hypothesis that the DNA damage induced by ALA may be associated with the development of HCC in individuals suffering from AIP.
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PMID:Is 5-aminolevulinic acid involved in the hepatocellular carcinogenesis of acute intermittent porphyria? 1193 Sep 45

We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial Mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allogeneic, sibling bone marrow transplantation (BMT). During conditioning for her BMT, symptoms of FMF, including splenomegaly, arthritis, and recurrent abdominal pain, began to resolve and she was gradually weaned off colchicine. Now, 2 years after the transplantation, she remains free from FMF symptomatology and is off all immunosuppressants. This case demonstrates that symptoms of FMF can be alleviated by the therapy used during allogeneic BMT. In this patient it is likely that the missing factor in FMF is now being provided by granulocytes derived from the stem cells within transplanted bone marrow.
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PMID:Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. 1281 18

Iron overload in body tissues can cause complications such as cirrhosis, cardiomyopathy, diabetes, hypogonadism and arthritis. In populations of northern European descent, most iron overload is due to hereditary haemochromatosis (HHC), a genetic condition that causes increased iron absorption. HHC can be treated or prevented by regular phlebotomy treatments. Some experts have called for population screening for HHC, so that early phlebotomy treatment can be initiated. Two screening tests are available: measurement of the serum iron transferrin saturation (Tf%) and genetic testing for HFE mutations. However, both methods have low positive predictive values. Current data suggest that most people at risk are unlikely to develop clinical symptoms and that the population prevalence of clinical complications of HHC is low, arguing against population screening. Two other prevention strategies are available. (1) Health provider education, to heighten awareness of HHC as an explanation for symptoms and signs seen in early iron overload including unexplained fatigue, joint pain, palpitations, abdominal pain, elevated liver function tests, hepatomegaly and elevated serum ferritin. (2) Family-based testing after a diagnosis of HHC, to ensure that relatives are evaluated for evidence of iron overload. More research is also needed to identify the factors that increase risk for disease in persons with excess iron uptake, to determine whether moderate iron overload is a health risk and to evaluate the causes of iron overload other than HHC.
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PMID:Hereditary haemochromatosis: a realistic approach to prevention of iron overload disease in the population. 1240 10

A 29-year-old woman presented to the emergency department with exhaustion, fatigue, and abdominal pain. She reported having received a diagnosis of bulimia nervosa 10 years before. On examination, she had a marked pallor and was severely malnourished. Laboratory analysis revealed a dramatically low hemoglobin level of 1.7 g/dL (ref: 11.5-15.8 g/dL). Serum iron was quantified as 1.4 micromol/L (ref: 7-26 micromol/L), ferritin as 5 ng/mL (ref: 10-120 ng/mL), and the level of serum transferrin as 212 mg/dL (ref: 200-360 mg/dL). A duodenal biopsy revealed villous atrophy in the mucosal layer indicative for celiac disease. This diagnosis was confirmed by serum levels of endomysial antibodies, tissue transglutaminase antibody, and antigliadin antibodies. The newly diagnosed gluten-sensitive enteropathy is likely to be in part responsible for the severe symptoms reported. The extent of hemoglobin decline in combination with an astonishing lack of critical symptoms seen in this patient is a rarity. We conclude that anorectic patients with severe anemia and malnutrition should be evaluated for the presence of additional somatic conditions.
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PMID:Very severe iron-deficiency anemia in a patient with celiac disease and bulimia nervosa: a case report. 1629 20

A 4-year-old girl was evaluated for hair loss of a few weeks' duration. History of the present illness, medical history, and review of systems were obtained from the parents, who described progressive diffuse hair loss with hair dryness and brittleness, with no change in the child's eating habits or any other unusual symptoms. No fever, weight loss, diarrhea, vomiting, abdominal pain, chronic cough, dyspnea, change in appetite, change in bowel habit, or urinary symptoms were noted. On further questioning, her nutritional history revealed that she always favored cow's milk in her diet. The patient has been healthy with no significant medical history, surgical history, psychiatric history, or history of hospitalization. She was taking no medications. Her mother's pregnancy and the child's birth history were uneventful. The child was up-to-date on her vaccinations. Her physical examination showed a healthy-appearing child who was at 50% on the height chart and 70% on the weight growth chart. She was afebrile with a respiratory rate of 24 breaths per minute, pulse rate of 110 beats per minute, and pulse oximetry of 99% on room air. Skin examination revealed interstitial diffuse patchy alopecia with very dry hair and nonscarred, normal-appearing scalp. The hair pull test was normal, with 4 hairs extracted. Results of examination of her eyes (including visual acuity) and lungs were normal, and no abnormalities were found on heart, abdominal, musculoskeletal, and neurologic examinations. Laboratory workup showed normal electrolytes, blood urea nitrogen, creatinine, and blood sugar levels. Her complete blood cell count with differential was normal, ferritin concentration level was 110 ng/mL (reference, 40-200 ng/mL), iron level was 75 microg/dL (reference, 35-175 microg/dL), and total iron-binding capacity was 310 microg/dL (reference, 245-400 microg/dL). Levels of liver enzymes, total bilirubin, serum protein, and albumin were normal, as were the results of urinalysis. Thyroid function test results were normal and levels of vitamins A and D were also normal. Low levels of serum zinc were measured repeatedly at 48 and 61 microg/dL (reference, 66-144 microg/dL) at 2 different laboratories. She was started on zinc supplement (50 mg daily) for 6 months and her diet was modified. The hair loss stopped in 3 weeks. Follow-up in 4 months showed no evidence of alopecia, with normal-looking hair.
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PMID:Diffuse alopecia in a child due to dietary zinc deficiency. 1761 80

Legionnaires' disease is a common cause of non-zoonotic atypical community-acquired pneumonia (CAP). Legionnaires' disease has varied manifestations but may be diagnosed clinically on the basis of its characteristic pattern of extra-organ involvement. In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of Legionnaires' disease include relative bradycardia, mental confusion/ encephalopathy, loose stools/diarrhea, abdominal pain, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria. The radiologic manifestations of Legionnaires' disease are varied and no radiographic appearance is pathopneumonic. Patchy infiltrates in Legionnaires' disease are symmetrical and rapidly progressive even on appropriate anti-Legionella antimicrobial therapy. Spontaneous unilateral pneumothorax is a rare radiographic manifestation of Legionnaires' disease. We present a case of a young male who is presenting clinical finding was that of spontaneous bilateral pneumothoraces due to Legionella CAP. We believe this is the first reported case of Legionnaires' disease presenting as spontaneous bilateral pneumothoraces. Clinicians should be aware of the protean radiological manifestations of Legionnaires' disease. In patients presenting with CAP and unilateral or bilateral spontaneous pneumothorax, clinicians should have Legionnaires' disease in the differential diagnosis.
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PMID:Legionella community-acquired pneumonia (CAP) presenting with spontaneous bilateral pneumothoraces. 1848 36

We report on a seventeen year old girl with persistent fever of unknown origin. An initial episode of abdominal pain led to laparotomy and appendectomy, which did not reveal any pathological findings. In the course of the next 3 weeks, the girl's general condition progressively deteriorated. Despite extensive diagnostics, no explanation was found. In summary, the girl was cared for by five different departments in two hospitals before she was admitted to our Children's Hospital. We too were initially misguided by the clinical picture of an infectious disease and treated the girl unsuccessfully with antibiotics. The clue in this case was the finding of a markedly elevated level of serum ferritin. While a normal upper value of less than 400 microg/l is reported, our patient displayed levels above 60,000 microg/l. Such extreme elevations of serum ferritin have been almost exclusively reported for hemophagocytic syndromes, as hemophagocytic lymphohistiocytosis (HLH). In HLH, impaired cytolytic function of T cells and natural killer cells leads to a state of hyperinflammation. We treated our patient with immunoglobulins and corticosteroids. Simultaneously, we started immunomodulatory therapy with oral cyclosporine A. The clinical response to this treatment was remarkable. The child's general condition stabilized quickly and the fever vanished. Additionally, the recovery was accompanied by a normalization of laboratory findings. In conclusion, HLH is a potentially life-threatening disease, which has to be considered in cases with fever of unknown origin. In our case, the diagnostic clue was an extreme elevation of ferritin.
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PMID:Hyperferritinemia as the diagnostic clue in life-threatening hemophagocytic lymphohistiocytosis. 1919 27

Ferric carboxymaltose (Ferinject(R)), a novel iron complex that consists of a ferric hydroxide core stabilized by a carbohydrate shell, allows for controlled delivery of iron to target tissues. Administered intravenously, it is effective in the treatment of iron-deficiency anaemia, delivering a replenishment dose of up to 1000 mg of iron during a minimum administration time of </=15 minutes. Results of several randomized trials have shown that intravenously administered ferric carboxymaltose rapidly improves haemoglobin levels and replenishes depleted iron stores in various populations of patients with iron-deficiency anaemia, including those with inflammatory bowel disease, heavy uterine bleeding, postpartum iron-deficiency anaemia or chronic kidney disease. It was well tolerated in clinical trials. Ferric carboxymaltose is, therefore, an effective option in the treatment of iron-deficiency anaemia in patients for whom oral iron preparations are ineffective or cannot be administered. Ferric carboxymaltose is a macromolecular ferric hydroxide carbohydrate complex, which allows for controlled delivery of iron within the cells of the reticuloendothelial system and subsequent delivery to the iron-binding proteins ferritin and transferrin, with minimal risk of release of large amounts of ionic iron in the serum. Intravenous administration of ferric carboxymaltose results in transient elevations in serum iron, serum ferritin and transferrin saturation, and, ultimately, in the correction of haemoglobin levels and replenishment of depleted iron stores. The total iron concentration in the serum increased rapidly in a dose-dependent manner after intravenous administration of ferric carboxymaltose. Ferric carboxymaltose is rapidly cleared from the circulation and is distributed primarily to the bone marrow ( approximately 80%) and also to the liver and spleen. Repeated weekly administration of ferric carboxymaltose does not result in accumulation of transferrin iron in patients with iron-deficiency anaemia. Intravenously administered ferric carboxymaltose was effective in the treatment of iron-deficiency anaemia in several 6- to 12-week, randomized, open-label, controlled, multicentre trials in various patient populations, including those with inflammatory bowel disease, heavy uterine bleeding or postpartum iron-deficiency anaemia, and those with chronic kidney disease not undergoing or undergoing haemodialysis. In most trials, patients received either ferric carboxymaltose equivalent to an iron dose of </=1000 mg (or 15 mg/kg in those weighing <66 kg) administered over </=15 minutes (subsequent doses administered at 1-week intervals) or oral ferrous sulfate at a dose equivalent to 65 mg iron three times daily or 100 mg iron twice daily. In one trial, patients with chronic kidney disease undergoing haemodialysis received 200 mg of iron intravenously either as ferric carboxymaltose or iron sucrose administered into the haemodialysis line two to three times weekly. In all trials, ferric carboxymaltose was administered until each patient had received his or her calculated total iron replacement dose. Haemoglobin-related outcomes improved in patients with iron-deficiency anaemia receiving ferric carboxymaltose. Treatment with ferric carboxymaltose was associated with rapid and sustained increases from baseline in haemoglobin levels. Ferric carboxymaltose was considered to be as least as effective as ferrous sulfate with regard to changes from baseline in haemoglobin levels or the proportion of patients achieving a haematopoietic response at various timepoints. In general, improvements in haemoglobin levels were more rapid with ferric carboxymaltose than with ferrous sulfate. In patients with chronic kidney disease undergoing haemodialysis, ferric carboxymaltose was at least as effective as iron sucrose. Ferric carboxymaltose also replenished depleted iron stores and improved health-related quality-of-life (HR-QOL) in patients with iron-deficiency anaemia. Recipients of ferric carboxymaltose demonstrated improvements from baseline in serum ferritin levels and transferrin saturation, as well as improvements from baseline in HR-QOL assessment scores. Ferric carboxymaltose was at least as effective as ferrous sulfate with regard to endpoints related to serum ferritin levels, transferrin saturation and HR-QOL. Ferric carboxymaltose was well tolerated in clinical trials in patients with iron-deficiency anaemia, with most drug-related adverse events considered to be mild to moderate in severity. Commonly reported drug-related adverse events include headache, dizziness, nausea, abdominal pain, constipation, diarrhoea, rash and injection-site reactions. The incidence of drug-related adverse events in patients receiving intravenous ferric carboxymaltose was generally similar to that in patients receiving oral ferrous sulfate. In general, rash and local injection-site reactions were more common with ferric carboxymaltose, whereas gastrointestinal adverse events were more frequent with ferrous sulfate. In patients with chronic kidney disease undergoing haemodialysis, a lower proportion of ferric carboxymaltose than iron sucrose recipients experienced at least one drug-related adverse event.
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PMID:Ferric carboxymaltose: a review of its use in iron-deficiency anaemia. 1940 53


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