Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of a female neonate with Beckwith-Wiedemann syndrome who manifested upper airway obstruction soon after birth and suffered from intractable hypoglycemia and abdominal distention caused by nephromegaly. She was delivered at 31 weeks of gestation with 2480 g and was diagnosed as Beckwith-Wiedeman syndrome, manifesting macroglossia, hepatomegaly, nephromegaly and omphalocele. Her trachea was intubated 30 minutes after birth due to upper airway obstruction. At 12 days of life, glossopexy was performed to relieve the airway obstruction. Although tracheal extubation was successfully accomplished 12 days later, 21 days after the glossopexy she manifested apnea and hypoxia and required tracheal intubation and mechanical ventilation again. We suspected hypoglycemia or central apnea to be the cause of apnea and started the administration of somatostatin analog as a treatment for hypoglycemia. In addition to the apnea, abdominal distention caused by nephromegaly exacerbated her respiratory condition. At 69 days of life she died of sepsis complicated with disseminated intravascular coagulation and renal failure. A needle biopsy at autopsy revealed nephroblastomatosis.
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PMID:[A neonate with Beckwith-Wiedemann syndrome who developed upper airway obstruction after glossopexy]. 1184 Jun 63

Carcinoids are neuroendocrine tumours of the gut which may also be found in the bronchus, pancreatic islets and retroperitoneum. They probably arise from gastrointestinal or bronchopulmonary pluripotential stem cells. Carcinoid tumours derived from these cells are potentially malignant; the strength of the tendency for aggressive growth correlates with the site of origin, depth of local penetration and the size of the tumour. Carcinoids occur sporadically or result from specific hereditary tumour syndromes. Mutations and/or aberrant expression of specific genes induce and promote tumour growth. Clinical features include local symptoms due to angulation or obstruction and hepatomegaly due to liver metastases. The carcinoid syndrome commonly involves flushing, diarrhoea, bronchospasm and hypotension. Other distinct syndromes may be caused by tumour release of products that may also be used as biochemical markers in diagnosis and follow-up. Scanning using radiolabelled octreotide, an analogue of somatostatin, sensitively identifies occult primary and metastatic deposits. Localized carcinoid tumours should be resected. Some patients benefit from hepatic resection. Palliation of symptoms is best achieved with octreotide. Hepatic artery chemoembolization may produce long-acting palliation. Further genetic characterization of the different types and stages of carcinoid development as well as assessment of gene expression profiles may improve differential diagnosis, prognosis and treatment.
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PMID:The spectrum of carcinoid tumours and carcinoid syndromes. 1462 99

A 68 year old Ecuadorian man was investigated for polyuria, polydipsia and weight loss of 3 kg during the previous two months. Insulin dependent diabetes mellitus was diagnosed 10 year before admission and treated with appropriate diet and insulin (35 U/d). 18 months before was diagnosed in El Ecuador of "multiple liver nodes non-suggestive of malignancy". Physical examination showed a large multinodular petrous hepatomegaly. There was no evidence of skin lesions. Results of laboratory studies included a basal plasma glucose level that ranged between 275-367 mg/dl (N=60-100), glycosylated haemoglobin of 8.9% (N<5) and a serum albumin of 2.8 gr./dl (N=3.4-4.8). At admission non-other laboratory alterations were detected. Computed tomography showed a mass on the head of the pancreas with loco-regional lymph nodes and liver metastases. Tumor markers were normal. Fine-needle aspiration cytology of the liver masses revealed the presence of liver metastases of a non-differentiated malignant tumor. A 111In-DTPAOC scintigraphy revealed the presence of somatostatin receptors in the liver metastases, also detecting the presence of multiple bone metastases in the axial and appendicular skeleton. Plasma glucagon level was 678 pg/ml (N<250). A diagnosis of metastatic glucagonoma was established and therapy with streptozocin, 5-FU, insulin and synthetic somatostatin analogs was initiated. Three months after the therapy initiation the patient was symptom free. Some weeks after the patient suffered from left hip pain, and a control 111In-DTPA scintigraphy showed progression of his bone metastases. In conclusion, glucagonoma must be suspected in all diabetic patients with metastatic liver, even in absence of necrotic migratory erythema. In these circumstances, plasmatic glucagon level and somatostatin receptors scintigraphy will be a useful tool for establishing the final diagnosis.
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PMID:[Diabetes mellitus and pancreatic tumor]. 1471 49

The neuropeptide hormone somatostatin reduces fibrosis and Schistosoma-caused clinical morbidity in the rodent model. In our study we aimed to delineate an association between fibrosis and the inability to generate critical levels of endogenous somatostatin in S. mansoni infected subjects. In June 2001, 85 subjects from the district dispensary at Richard Toll in the Medical Region of Saint-Louis, Senegal, were selected. Fifty-seven subjects were infected with S. mansoni of whom 32 were suffering from severe morbidity (SM). Twenty-eight subjects showed an inactive disease status with no evident infection at the actual time of study. All subjects were classified according to age, sex, occupation, height, weight, and parasite eggs per gram. All 85 participated in a water contact and morbidity questionnaire, underwent a clinical examination and donated 5ml of peripheral blood for detecting plasma levels of somatostatin. Ultrasonography detected fibrosis grade in all the subjects. To address whether inherent somatostatin levels determined clinically evident disease severity (epg, hepatomegaly, splenomegaly, hematemesis, ascites), the mean somatostatin values of the inactive disease status group and severe morbidity group were compared. Low somatostatin levels were depicted in subjects with severe morbidity symptoms associated with schistosomiasis as compared to exposed but inactive disease status subjects residing in the same region. Logistic regression analysis indicated that with decreasing somatostatin values the probability of severe morbidity increased with age being a confounding factor. To address whether inherent somatostatin levels determined fibrosis and if this association was significant, plasma somatostatin levels of non-fibrotics (ultrasonographic grading A), and fibrotics (ultrasonographic grading B-E) were compared. In all age groups as well as in adults alone, mean somatostatin levels were higher in the non-fibrotic group as compared to the fibrotics group, the difference being significant. The group B comprised of borderline fibrotic cases, therefore a separate analysis was done between groups A (non-fibrotics) and groups C, D (confirmed fibrotics). Mean somatostatin values were higher in the non-fibrotic group as compared to the fibrotics group, the difference being borderline significant. In schistosomiasis patients, circulating levels of somatostatin by binding to hepatic stellate cells (HSC) may modulate fibrosis. This phenomenon is regulated by age whereas gender and prior treatment have no effect on this association. Host specific somatostatin levels may create a 'preset environment' status that can determine progression to severe fibrosis.
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PMID:Circulating levels of the neuropeptide hormone somatostatin may determine hepatic fibrosis in Schistosoma mansoni infections. 1517 46

Management of symptomatic polycystic liver disease (PLD) has remained primarily unchanged since the early 20th century when multiple case reports described management of non-parasitic liver cysts. In 1968, Lin et al. described the fenestration procedure, "aspiration of the cysts, incision, partial excision with or without external drainage, or marsupilization and anastomosis to the gastrointestinal tract". Further surgical options have included cyst sclerotherapy, laparoscopic cyst aspiration, partial hepatectomy, and orthotopic liver transplant (OLT). Recently there has been discussion of medical management with somatostatin analogs to reduce hepatomegaly in PLD with varying success. There is no current consensus on treatment or standard of care for symptomatic PLD, it is largely up to surgeon preference and ability; however, there has been a movement toward early OLT with Model for End-Stage Liver Disease (MELD) score exception points. This case series reviews two female patients with normal renal and hepatic function with symptomatic PLD treated with transverse hepatectomy. We propose that patients suffering from symptomatic PLD, with retained renal and hepatic function, can be treated with transverse hepatectomy conserving limited donor livers for decompensated patients; moreover, transverse hepatectomy does not disrupt the major suprahepatic vena cava preserving potential surgical access for future OLT.
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PMID:Preserving the organ donor pool and suprahepatic vena cava: Case series of transverse hepatectomy for polycystic liver disease. 3154 66