Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Phlebotomy is generally thought to be contraindicated in porphyria cutanea tarda (PTC) associated with hemodialysis for the anemia which is often present in uremic patients. We report a patient with a severe form of hemodialysis-related PTC and biochemical parameters suggestive of iron overload in whom treatment with small repeated phlebotomies was well tolerated without any significant worsening of the anemia and gave marked biochemical improvement and complete clinical remission.
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PMID:Treatment of hemodialysis-related porphyria cutanea tarda with small repeated phlebotomies. 360 Sep 21

The authors report a case of massive hematobilia due to hemorrhagic cholecystitis. Hematobilia is a rare pathology which affects the biliary tract and gallbladder. The first authors to describe hematobilia defined it as a hemorrhage of the gastroenteric tract due to the communication of blood vessels with the intra and extra-hepatic biliary tract and in some rare cases to the communication of the branches of the cystic artery within the gallbladder wall. Sandblom, in particular, specified that bleeding must be within the biliary tract and not secondary to an enterobiliary fistula. In 55% of cases the pathogenesis of hematobilia is traumatic, whereas in the remaining 45% the cause may be attributed to a variety of pathologies. Trauma include both non-surgical and surgical traumas; in the first group the most frequent cause is hepatic trauma, although it is worth taking into account the presence of post-traumatic arteriobiliary fistulas, lesions of arterial vessel walls with subsequent necrosis and rupture within the biliary vessels. Surgical traumas comprise lesions caused by therapeutic or diagnostic transparenchymal manoeuvres (PTC, biopsy). Non-traumatic causes include pathologies of vascular, cholecystic, inflammatory-infective and neoplastic origin. Symptoms are varied and take the form of anemia, massive bleeding with the onset of jaundice and pain in the hypochondrium and sometimes the epigastrium, whereas enterorrhagia is manifested by melena and more rarely hematemesis. The diagnosis must be made as quickly as possible; mortality increases with the delay in controlling hemorrhage. Differential diagnosis must take into account other causes of enterorrhagia, obstructive jaundice and anemia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Massive hemobilia caused by necrotic hemorrhagic cholecystitis. Report of a case]. 824 99

Gene therapy, a molecular medicine based on vector-mediated transfer of therapeutic genes, holds promise for a cure of monogenetic inherited diseases. In recent years, tremendous progress has been reported in the treatment of haematological disorders: clinical trials in severe combined immune deficiencies have been successful by using retroviral vectors to express target genes in haematopoietic stem cells, which after transplantation efficiently reconstituted the immune system concomitant with substantial improvement in the clinical status of patients. Conversely, unexpected adverse events were also encountered. In other work, progress towards clinical studies on ex vivo gene transfer for Fanconi anaemia and haemoglobinopathies has been made. Each approach features a unique treatment strategy and also faces various impediments to success. In the case of the X-linked bleeding disorder haemophilia, several Phase I/II clinical trials were conducted, including in vivo administration of viral vectors to skeletal muscle and liver. Adeno-associated viral gene transfer of coagulation Factor IX has been documented in human subjects, reaching therapeutic levels after infusion into a hepatic blood vessel. However, sustained expression of therapeutic levels (as shown in large animal models of haemophilia) has not yet been achieved in humans. In general, long-term follow-up will be important for assessment of the safety of all existing gene therapy strategies.
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PMID:Gene therapy for treatment of inherited haematological disorders. 1661 Sep 80

Renal transplantation has become one of the most common surgical procedures performed to replace a diseased kidney with a healthy kidney from a donor. It can help patients with kidney failure live decades longer. However, renal transplantation also faces a risk of developing various blood disorders. The blood disorders typically associated with renal transplantation can be divided into two main categories: (1) Common disorders including post-transplant anemia (PTA), post-transplant lymphoproliferative disorder (PTLD), post-transplant erythrocytosis (PTE), and post-transplant cytopenias (PTC, leukopenia/neutropenia, thrombocytopenia, and pancytopenia); and (2) Uncommon but serious disorders including hemophagocytic syndrome (HPS), thrombotic microangiopathy (TMA), therapy-related myelodysplasia (t-MDS), and therapy-related acute myeloid leukemia (t-AML). Although many etiological factors involve the development of post-transplant blood disorders, immunosuppressive agents, and viral infections could be the two major contributors to most blood disorders and cause hematological abnormalities and immunodeficiency by suppressing hematopoietic function of bone marrow. Hematological abnormalities and immunodeficiency will result in severe clinical outcomes in renal transplant recipients. Understanding how blood disorders develop will help cure these life-threatening complications. A potential therapeutic strategy against post-transplant blood disorders should focus on tapering immunosuppression or replacing myelotoxic immunosuppressive drugs with lower toxic alternatives, recognizing and treating promptly the etiological virus, bacteria, or protozoan, restoring both hematopoietic function of bone marrow and normal blood counts, and improving kidney graft survival.
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PMID:Blood disorders typically associated with renal transplantation. 2585 31