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)

We present the case of a 17-year-old male who was diagnosed at birth with hereditary fructose intolerance (HFI). The patient complained of morning-time asthenia and post-prandial drowsiness despite a correct sleep pattern. The physical examination and biological check-up only showed severe vitamin C deficiency (<10 mol/l; normal range: 26-84). The patient's tiredness was attributed to this vitamin C deficiency, which is a frequent side-affect of the fructose-free diet. A change in diet associated with a supplementation in vitamin C was advised, with an increase in vegetable intake, principally avoiding carrots, onions, leaks and tinned sweet-corn. This case offers the opportunity for a review of this rare disease. Two kinds of fructose metabolism disorders (both autosomal recessive) are recognized: 1) essential fructosuria caused by a deficiency of fructokinase, which has no clinical consequence and requires no dietary treatment; 2) HFI, linked to three main mutations identified in aldolase B gene that may be confirmed by fructose breath test, intravenous fructose tolerance test, and genetic testing. In HFI, fructose ingestion generally induces gastro-intestinal (nausea and vomiting, abdominal pain, meteorism) and hypoglycemic symptoms. Fasting is well tolerated. If the condition remains undiagnosed, it leads to liver disease with hepatomegaly, proximal tubular dysfunction, and slow growth and weight gain. In conclusion, endocrinologists should be aware of this rare metabolic disease in order to provide careful follow-up, particularly important when the patient reaches adulthood. Moreover, hypoglycemia induced by fructose absorption, unexplained liver disease, irritable bowel syndrome or familial gout in an adult is suggestive of the diagnosis.
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PMID:Doctor, my son is so tired... about a case of hereditary fructose intolerance. 1803 30

We report a case of acinar cell carcinoma primary to the liver. The tumor was diagnosed in a 35-year-old woman complaining of abdominal pain and asthenia; serum alpha-fetoprotein (AFP) levels were increased at 6,000 IU/mL; imaging studies showed a hypervascular mass located in the left lobe of the liver. A left lobectomy was performed. The tumor had a heterogeneous appearance. In well-differentiated areas, tumor cells formed acinar structures, had a pyramidal shape and a highly eosinophilic, granular cytoplasm, PAS diastase resistant. In less-differentiated areas, tumor cells were endocrinelike. The immunohistochemical study showed that tumor cells expressed trypsin. Alpha-fetoprotein and alphal-antritrypsin were detected in about 30% of cells; HepPar1 was present in 15% of cells. Chromogranin A and synaptophysin were detected in rare cells. After surgery, serum AFP levels quickly returned to normal; no evidence of recurrence or metastasis was observed during follow-up. The final diagnosis, based on histological, immunohistochemical, and ultrastructural arguments, was extra-pancreatic acinar cell carcinoma, primary to the liver. This unusual lesion is likely to be the result of an abnormal differentiation pathway involving a transformed multipotential progenitor cell.
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PMID:Primary acinar cell carcinoma of the liver. 1819 78

Here we report a case of a 25-year-old woman with mesenteric and hepatic sarcoidosis without lung involvement complicated by severe noncirrhotic portal hypertension. In 1992, at the clinical presentation, she had abdominal pain, asthenia, and weight loss. Splenomegaly, signs of flogosis, sideropenic anemia, and cholestasis were observed. Laparoscopic abdominal exploration and histological analysis demonstrated noncaseating granulomas of the liver, abdominal lymph nodes, and mesenteric connective tissue. The clinical course was severe with episodic remissions and recrudescences characterized by ascites (mild or moderate), elevation of bilirubin levels (mean: 1.1 mg/dl; range: 0.9-3.5 mg/dl), reduction of albumin levels (mean: 4 g/dl; range: 3.4-4.2 g/dl), and prolongation of elevated international normalized ratio (mean: 1; range: 0.9-1.4). In 1997, the patient had variceal bleeding. Complete hemostasis was obtained with band ligation. Liver function was preserved, and until 2000 the disease remained stable. In 2001, the patient became pregnant. At the 36th week of gestation, the patient delivered a healthy female infant and afterwards remained in clinical remission. This report stresses that sarcoidosis can have a hepatic and mesenteric involvement in absence of thoracic lymphadenopathy. Portal hypertension may be severe, and in absence of cirrhosis it may be associated with portal thrombosis. Finally, portal hypertension in patients with hepatic sarcoidosis and preserved liver function should not be considered as an absolute contraindication to pregnancy.
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PMID:Hepatic and mesenteric sarcoidosis without thoracic involvement: a case of severe noncirrhotic portal hypertension and successful pregnancy. 1878 74

The objective of this study was to assess antiemetic efficacy of granisetron in inoperable intestinal obstruction caused by advanced cancer. The study was open, prospective, and multi-centered. We assessed 24 patients (mean age: 61.3 years; 10 males, 14 females) with intestinal obstruction who were refractory to previous antiemetics. Obstruction involved the upper intestine in six patients, the lower intestine in three, and was at multiple levels in 15. Daily treatment included intravenous granisetron (3mg) and dexamethasone (8 mg); nasogastric drainage was not allowed. Subcutaneous haloperidol was available as rescue therapy. A numeric scale was used to evaluate nausea, pain, asthenia, and anorexia at baseline visit and every 24 hours up to the completion of four days of treatment (final visit). Treatment failure was defined as nausea >4 on the numeric scale, vomiting 2/day or more, and rescue therapy with haloperidol at 5mg/day or more. Of the 24 patients, 23 were evaluable for efficacy. Evaluation pre- vs. post-treatment indicated a significant decrease in the severity of nausea (score 6.9 vs. 0.8; P<0.001), number of episodes of vomiting (5.3 vs. 1.0; P<0.001), and abdominal pain (score 4.4 vs. 1.2; P<0.001). Nausea and vomiting control was achieved in 86.9% of patients. Although there was a trend toward greater efficacy in the lower and multiple levels of obstruction, the differences were not statistically significant owing, probably, to small sample size. We conclude that granisetron may be highly efficacious in the control of emesis resulting from intestinal obstruction caused by metastatic cancer, and can be used effectively in patients refractory to other antiemetics.
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PMID:Efficacy of granisetron in the antiemetic control of nonsurgical intestinal obstruction in advanced cancer: a phase II clinical trial. 1878 38

Epidermal growth factor has an important role in the regulation of proliferation and differentiation in epidermal keratinocytes, as well as in the survival, angiogenesis and metastasis of cancer cells. Cetuximab is a chimeric monoclonal antibody selective for the epidermal growth factor receptor that induces a broad range of cellular responses that enhance tumor sensitivity to radiotherapy and chemotherapeutic agents. However, it can cause adverse events in the patient including acneiform eruption, asthenia, abdominal pain and nausea/vomiting. We report a case of severe acneiform eruption induced by cetuximab in a 56-year-old man with colorectal cancer and liver metastases.
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PMID:Severe acneiform eruption induced by cetuximab (Erbitux). 1897 7

Choroidal melanoma represents the primary intraocular malignancy in adults with a reported incidence of about 4000 cases per year. The liver is the sole site of metastases in more than 80% of cases and is affected in up to 90% of patients who develop metastatic disease. Patients with metastatic melanoma have usually a median survival of 6 months. In the present paper, the case of a 42-year-old woman with choroidal melanoma who underwent surgery and was followed up for 7 years with no evidence of relapse is reported. Eight months later she had a car accident and was admitted to the hospital complaining of abdominal pain, lack of appetite and asthenia. At physical examination, jaundice and hepatomegaly were found. Abdominal ultrasonography revealed the presence of several hypoechoic lesions, and liver function was compromised due to coagulation deficiency. Thus, the diagnosis of metastatic choroidal melanoma was obtained by video-assisted laparoscopy that showed disseminated darkly pigmented lesions on the surface of the liver. The patient died of liver failure three months later. At autopsy, histopathological examination of the liver confirmed the diagnosis, excluding local recurrence of the choroidal melanoma.
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PMID:Late liver metastases of choroidal melanoma detected by laparoscopy. 1918 Oct 11

Acute Chagas disease (ACD) is caused by Trypanosoma cruzi. ACD outbreaks due to probable oral transmission occur regularly in small family gatherings that are exposed to contaminated foods. We studied two cohorts of residents on islands in the Breves and Bagre municipalities, in July and August 2007, to identify risk factors of transmission and to recommend preventative measures. Of the 25 cases identified in both cohorts, 13 (52%) were men, and the most frequent symptoms were fever (96%),asthenia (80%), myalgia (76%), abdominal pain (64%), retro-orbital pain, headaches and asthma (52%). We recommend detailed investigation of future outbreaks and other studies to better understand and control oral transmission of T. cruzi.
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PMID:Investigation of two outbreaks of suspected oral transmission of acute Chagas disease in the Amazon region, Para State, Brazil, in 2007. 1976 77

A 75-year-old-man, with a 2-month history of abdominal pain, underwent a standard diagnostic workup that included a CT scan that showed a large right renal mass and subcentimeter nodes in the right and left lung lobes. In December 2003, the patient underwent right nephrectomy with adrenalectomy and a diagnosis of renal cell carcinoma (pT3N0M0 stage) was made. No further treatment was proposed and patient was followed up regularly. In October 2006, the annual gastrointestinal endoscopy showed asymptomatic multilobulated and polypoid masses in the gastric fundus and gastric body that corresponded to metastasis of the renal carcinoma that had been resected three years ago. Surgical treatment was refused and oral treatment with sunitinib (50 mg/day consecutively for 4 weeks followed by 2 weeks off) was initiated. Patient completed one cycle and development of acute toxicity (grade 3 asthenia, anorexia and mucositis) led to treatment interruption. After recovering from acute toxicity, the patient was proposed to reinitiate treatment with dose reduction, but he refused any medical treatment. At the follow-up visit, three months later, the gastrointestinal endoscopy showed four unspecific 2 mm nodules without malignant evidence. The whole-body CT did not reveal any other abnormality except for the known lung nodes. PET scan six months after treatment confirmed complete gastric response.
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PMID:Renal cell carcinoma: complete pathological response in a patient with gastric metastasis of renal cell carcinoma. 2011 Jul 81

Thrombotic thrombocytopenic purpura (TTP), which is typically characterized by fever and central nervous system manifestations and hemolytic uremic syndrome (HUS), in which renal failure is a prominent feature are the most common thrombotic microangiopathies (TMAs). TTP is usually associated with a severe deficiency of ADAMTS13 [a metalloproteinase involved in the degradation of von Willebrand factor (vWF) multimers], causing excessive accumulation of ultra-large vWF multimers and platelet aggregation with organ failure. By contrast, patients with HUS or other TMAs usually display a normal or at least detectable ADAMTS13 activity. A TMA may be occasionally developed in association with HELLP (haemolysis, elevated liver enzymes, and low platelet count) syndrome, infections, cancer and bone marrow transplantation. In cancer patients, TMA may be related to chemotherapeutic regimens or the malignant disease itself. Occasionally, TMA is the first manifestation of an occult cancer, and in large series approximately 3% of patients who were originally diagnosed with TTP, were in fact harboring an occult malignancy. The pathogenesis of cancer-associated TMAs is not completely elucidated, but probably the most important factor is endothelial damage. However, cancer-associated TMAs show some distinct features that should promptly lead to complementary investigations for an underlying malignancy. Weakness, cough and dyspnoea, fever, weight loss, bone and abdominal pain are the most common presenting symptoms. Generally, biochemistry reveals markedly increased LDH levels, increased alkaline phosphatase and the blood smear shows erythromyelemia. Bone marrow biopsy is a valuable tool in order to establishing malignant seeding. Treatment of the underlying neoplasia is the mainstay of therapy and there is no role for plasmapheresis or plasma infusions.
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PMID:Thrombotic microangiopathy and occult neoplasia. 2039 71

We report a 80-year-old woman who presented with asthenia, confusion and abdominal pain, leading to a diagnosis of severe pneumonia complicated by a colonic pseudo-obstruction. The unfavourable outcome with antibiotic treatment and a recent past medical history of thoracic radiotherapy pointed to a possible diagnosis of radiation pneumonitis. Absence of other explanation and the rapid improvement with corticosteroids confirmed this rare and potentially serious diagnosis, especially among elderly people.
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PMID:[Radiation pneumonitis: a rare and potentially severe pneumonia. Usefulness of corticosteroids]. 2041 91


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