Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present what we believe to be the first reported association between retinal angiomatosis and Stardgardt's disease (Gass type 3). We have had the opportunity of following photographically a patient for the last eleven years. The earliest photos showed the macular problem whilst the latter shots showed the presence of a capillary angioma involving the temporal part of the optic disc and the adjacent retina of the left eye. We believe that this tumour arose in previously normal tissue. Examination and investigation of the patient revealed a peripapillary choroidal rupture at the site of the angioma, thalassaemia minor, retinitis pigmentosa, mildly dilated lateral ventricles, hepatic angiomata and a negative family history apart from a younger sister who was mildly retarded and showed an identical fundal picture of Stargardt's disease. Later examination revealed a small peripheral angioma inferiorly in the same eye. The diagnostic and management problems will be discussed.
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PMID:[Retinal angiomatosis in association with Stargardt's disease. A case report]. 270 Nov 4

The liver in an infant or child is as liable to the same pathologies afflicting the adult liver but with certain differences in prevalence and causes. Genetic disorders are more likely to present in the paediatric age group where many involve metabolic processes such as galactosemia, phenylketonuria, glycogen storage disease and others. Many of these present in the newborn period. However, neoplasms and hamartomas also present in the newborn period, such as congenital neuroblastoma with an enormously enlarged liver, hepatoblastoma and haemangioma. The latter may present with intractable cardiac failure as a result of considerable shunting of blood. Acquired liver lesions often present in the newborn period or early infancy and this includes hepatitis and biliary atresia. The difficulties in the differentiation of the two lesions will be discussed together with the management of biliary atresia. As the child grows older, Reyes encephalopathy with microvesicular fat in the liver is not uncommon. The pathophysiology of Reyes encephalopathy as seen locally will be described. The choledochal cyst with direct (Caroli's disease) or indirect effect on the liver will be described. Problems of childhood portal hypertension as well as congenital hepatic fibrosis will be described. Hemosiderosis of the liver is chiefly seen in homozygous beta-thalassaemia patients who have been kept alive with repeated blood transfusions. Amoebic and pyogenic hepatitis, fatty liver due to protein malnutrition, biliary ascariasis, etc, which are common in tropical and subtropical countries are rarely seen now in Singapore children.
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PMID:Paediatric liver disorders in Singapore. 346 38

Our experience at the Ramathibodi Hospital with 20 infants and children who had Aeromonas septicemia is reviewed. Their ages were from 1 day to 14 years. Eighteen patients had underlying diseases: leukemia, 5; aplastic anemia, 4; cirrhosis, 2; thalassemia/hemoglobinopathy, 3; renal failure, 1; ileal perforation, 1; marasmus, 1; and cavernous hemangioma with thrombocytopenia, 1. Blood cultures yielded Aeromonas hydrophila in all patients, and four patients had polymicrobial bacteremia. Fifteen episodes of septicemia were community-acquired and five were hospital-acquired. The clinical manifestations of these patients were similar to septicemia due to other Gram-negative enteric bacilli. Two patients each had ecthyma gangrenosum, necrotizing fasciitis and meningitis. Antibiotic treatment included penicillins, cephalosporins, aminoglycosides and sulfamethoxazole-trimethoprim. The overall case fatality rate was 50%; eight of the nine patients with acute leukemia or aplastic anemia died. With the exception of one child the blood cultures were sterile in all patients before death. Aeromonas septicemia is an uncommon but severe infection which occurs predominantly in compromised hosts.
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PMID:Aeromonas septicemia in infants and children. 672 2

Partial splenic embolization (PSE) is one of the intra-arterial therapeutic approaches of diseases. With the development of interventional radiology, the applications of PSE in clinical practice are greatly extended, while various materials are developed for embolization use. Common indications of PSE include hypersplenism with portal hypertension, hereditary spherocytosis, thalassemia, autoimmune hemolytic anemia, splenic trauma, idiopathic thrombocytopenic purpura, splenic hemangioma, and liver cancer. It is also performed to exclude splenic artery aneurysms from the parent vessel lumen and prevent aneurysm rupture, to treat splenic artery steal syndrome and improve liver perfusion in liver transplant recipients, and to administer targeted treatment to areas of neoplastic disease in the splenic parenchyma. Indicators of the therapeutic effect evaluation of PSE comprise blood routine test, changes in hemodynamics and in splenic volume. Major complications of PSE include the pulmonary complications, severe infection, damages of renal and liver function, and portal vein thrombosis. The limitations of PSE exist mainly in the difficulties in selecting the arteries to embolize and in evaluating the embolized volume.
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PMID:Clinical application of partial splenic embolization. 2553 66

Selective splenic artery embolization (SSAE) is a nonsurgical intervention characterized by the transcatheter occlusion of the splenic artery and/or its branch vessels using metallic coils or other embolic devices. It has been applied for the management of splenic trauma, hypersplenism with portal hypertension, hereditary spherocytosis, thalassemia and splenic hemangioma. We hereby describe a case of a patient affected by idiopathic thrombocytopenic purpura (ITP) and warm auto-immune hemolytic anemia (AIHA) both resistant to immunosuppressive and biological therapies, not eligible for a surgical intervention because of her critical conditions. She underwent SSAE and achieved a hematologic complete response within a few days without complications. SSAE is a minimally invasive procedure to date not considered a standard option in the management of AIHA and ITP. However, following the progressive improvement of the techniques, its indications have been extended, with a reduction in morbidity and mortality compared to splenectomy in patients with critical clinical conditions. SSAE was a lifesaving therapeutic approach for our patient and it may represent a real alternative for the treatment of resistant AIHA and ITP patients not eligible for splenectomy.
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PMID:Life-Threatening Autoimmune Hemolytic Anemia and Idhiopatic Thrombocytopenic Purpura. Successful Selective Splenic Artery Embolization. 2715 33