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)

Nonoperative management of splenic and hepatic injuries in children is safe, and the majority of those with isolated injuries do not require blood transfusion. Thirty-seven children were treated for blunt splenic or hepatic trauma from November 1983 to September 1989. There was one death in a patient with a lethal head injury. No operations were performed on those with isolated splenic or hepatic injuries. Three of those with multiple injuries underwent delayed laparotomy. Two had perirenal and retroperitoneal hematomas without active bleeding, and one had a bowel obstruction secondary to an intramural jejunal hematoma. There were no late complications related to the splenic or hepatic injuries. Eight children (22%) required surgery for other injuries. Twelve children were not transfused, including the majority (8/11) of those with isolated splenic or hepatic injury. The hematocrit of four of these children fell to below 28% and this anemia was well-tolerated. Two children with bleeding disorders (factor VIII [antihemophilic factor] and factor XII [Hageman factor] deficiency) did not require packed red blood cells transfusion. Two clinically distinct groups of children received blood transfusions: (1) eight patients with multiple injuries were transfused during initial resuscitation when unstable or during early operation for other system trauma (mean, 62.0 mL blood/kg body weight); and (2) three hemodynamically stable patients with isolated injuries and 14 stable patients with multiple injuries were transfused empirically after initial resuscitation solely because of decreasing blood counts. They received an average of 16.5 and 21.1 mL blood/kg body weight, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Transfusion requirements in conservative nonoperative management of blunt splenic and hepatic injuries during childhood. 221 46

The authors observed the patient T.P.D., aged 36, admitted to the clinic of RIHBT with melena and hematemesis. Since early childhood the patient has been treated on the occasions of hemorrhagic incidences for hemophilia A. The hemostatic investigations however, revealed normal level of factor VIII and the level of factor V--1%, providing grounds to revise the initial diagnosis and to admit that the rarely found parahemophilia is concerned. The treatment with freshly-frozen plasma, fresh blood, velin and iron preparations led to coping with hemorrhagic syndrome and posthemorrhagic anemia. The diagnostic possibilities are interpreted for establishing the deficiency of the factors of coagulation and of the specific substitution therapy.
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PMID:[Patient with factor V deficiency (parahemophilia) diagnosed and treated as hemophilia A]. 653 64

A 28-year-old hemophilia A patient was admitted to our hospital in July, 1991 because of high fever, chronic diarrhea and anemia. The patient had been recognized as a asymptomatic carrier of human immunodeficiency virus (HIV) in 1985 and had developed Pneumocystis carinii pneumonia and had been diagnosed as acquired immunodeficiency syndrome (AIDS) in 1990. Hematologic laboratory examinations on admission revealed pancytopenia and a CD4+ cell count of 3/mm3. X-ray findings of chest and abdomen were normal and bacterial cultures of sputum, urine, blood, stool, cerebrospinal fluid and bone marrow yielded no pathogenic microorganisms. Microscopical examination of the stained specimens showed no acid-fast bacilli. On his fifth hospital day, his liver and spleen enlarged markedly and an abdominal CT scan obtained on the 13th day revealed high-grade hepatosplenomegaly. Administration of several kinds of antibiotics, antifungal agents, antiviral agents, antituberculous agents and gamma-globulin medicines did not relieve the symptoms. On the 28th day the patient had developed a subarachnoid hemorrhage and died five days later. Retrospectively all cultures for acid-fast bacilli of the specimens on his admission yielded nontuberculous mycobacteria. The bacteria were identified as Mycobacterium avium by polymerase chain reaction and his disease was eventually diagnosed as disseminated Mycobacterium avium complex (MAC) infection. The liver and spleen weighed 2,660 g and 1,840 g respectively at autopsy. Although hepatosplenomegaly is commonly recognized in AIDS patients with disseminated MAC infection, such massive and rapid enlargement has been rarely observed. This case study emphasize the importance of diagnosis and rapid treatment at the early stage of MAC infection.
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PMID:[Massive and progressive hepatosplenomegaly caused by disseminated nontuberculous mycobacteriosis in a patient with acquired immunodeficiency syndrome]. 756 51

This study reports an unusual case of acute leukemia which was diagnosed as hemophilia A on initial admission for leukemia. A 3 year old boy was admitted to Kagoshima University Hospital with anemia. He was diagnosed as acute lymphoblastic leukemia. At the same time he was revealed to have severe hemophilia A- without any previous episodes of severe bleeding tendency or family history of this disease. The laboratory investigation showed his mother to be a carrier of hemophilia A. Although there are many cases of hemophilia which have developed malignant tumors, most of them were caused by association with human immunodeficiency virus (HIV) infection. Only five cases with coexistence of leukemia and hemophilia without HIV infection have been reported and the present case is the first one in Japan. At this stage, hemophiliacs are not necessarily regarded to be a population at risk for the development of leukemia. Furthermore, no particular subtype of leukemia was characterized among these patients in the literature.
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PMID:Acute childhood leukemia in a patient with hemophilia: first report in Japan. 816 18

The year 2000 saw the first successful treatment of a genetic disorder by gene therapy. Pediatric patients with X-linked severe combined immunodeficiency disorder (SCID-X1) received autologous CD34+ hematopoietic cells following ex vivo gene transfer using a retroviral vector, with subsequent demonstration of improved immune responses. A number of preclinical and clinical studies have been conducted with the aim of developing gene therapy for hemophilia, Fanconi anemia, sickle cell disease, beta-thalassemia, chronic granulomatous disease, and other inherited hematological disorders. The greatest advances in novel approaches toward treatment of hematological disorders have been made in hemophilia, with 3 current phase I clinical trials ongoing. Two trials are investigating the safety and feasibility of utilizing either an ex vivo, non-viral gene transfer technique or an intravenous infusion of a retroviral vector to treat adults with severe hemophilia A (factor VIII deficiency). The third study involves intramuscular administration of an adeno-associated viral (AAV) vector for expression of factor IX in adult patients with hemophilia B. Results from this study and from preclinical studies preceding the trial demonstrate that it is possible to safely administer high doses of a viral vector in vivo.
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PMID:Gene therapy for hereditary hematological disorders. 1217 74

High-capacity adenoviral (HC-Ad) vectors expressing B-domain-deleted human or canine factor VIII from different liver-specific promoters were evaluated for gene therapy of hemophilia A. Intravenous administration of these vectors into hemophilic FVIII-deficient immunodeficient SCID mice (FVIIIKO-SCID) at a dose of 5 x 10(9) infectious units (IU) resulted in efficient hepatic gene delivery and long-term expression of supraphysiologic FVIII levels (exceeding 15 000 mU/mL), correcting the bleeding diathesis. Injection of only 5 x 10(7) IU still resulted in therapeutic FVIII levels. In immunocompetent hemophilic FVIII-deficient mice (FVIIIKO), FVIII expression levels peaked at 75 000 mU/mL but declined thereafter because of neutralizing anti-FVIII antibodies and a cellular immune response. Vector administration did not result in thrombocytopenia, anemia, or elevation of the proinflammatory cytokine interleukin-6 (IL-6) and caused no or only transient elevations in serum transaminases. Following transient in vivo depletion of macrophages before gene transfer, significantly higher and stable FVIII expression levels were observed. Injection of only 5 x 10(6) HC-Ad vectors after macrophage depletion resulted in long-term therapeutic FVIII levels in the FVIIIKO and FVIIIKO-SCID mice. Intravenous injection of an HC-Ad vector into a hemophilia A dog at a dose of 4.3 x 10(9) IU/kg led to transient therapeutic canine FVIII levels that partially corrected whole-blood clotting time. Inhibitory antibodies to canine FVIII could not be detected, and there were no signs of hepatotoxicity or of hematologic abnormalities. These results contribute to a better understanding of the safety and efficacy of HC-Ad vectors and suggest that the therapeutic window of HC-Ad vectors could be improved by minimizing the interaction between HC-Ad vectors and the innate immune system.
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PMID:Therapeutic factor VIII levels and negligible toxicity in mouse and dog models of hemophilia A following gene therapy with high-capacity adenoviral vectors. 1240 98

We present a case of a 74-year-old male, who had a relapse of minimal change nephrotic syndrome (MCNS) as the initial presentation of acquired hemophilia A. MCNS had been maintained in remission with prednisolone 10 mg for 15 years. In early December 2005, the patient developed edema of the right leg, was admitted to a local general hospital, and was diagnosed as having a relapse of MCNS based on massive proteinuria (urine protein 6.1 g/day). One week later, severe anemia (hemoglobin 4.4 g/dl) and acute renal failure (creatinine 2.0 mg/dl) developed, and a CT scan of the abdomen revealed a hematoma in the left iliopsoas muscle. He was referred to our hospital with bleeding tendency. Laboratory examination revealed prolonged APTT 80.5 seconds), reduced factor VIII activity (<1%) and thepresence of factor VIII inhibitor at a titer of 19 Bethesda units/ml, based on which he was diagnosed as having acquired hemophilia A. With recombinant activated FVII, hemostasis was obtained and prednisolone administration 60 mg/day (1 mg/kg) was started. Both the acquired hemophilia A and MCNS responded well to the treatment with prednisolone. Six weeks after initiation of the treatment, factor VIII inhibitor and urine protein disappeared. This patient is considered to be a rare case; to the best of our knowledge, this is the third report of acquired hemophilia A with nephrotic syndrome.
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PMID:[Acquired hemophilia A developed at relapse of minimal change nephrotic syndrome]. 1763 2

Hyperbilirubinemia is a common cause for newborn hospital admission. Although the cause of hyperbilirubinemia is usually benign and self-limited, there is always a large differential diagnosis. Atypical presenting signs and symptoms, such as significant anemia or bleeding, should encourage further evaluation for underlying disorders, such as inherited coagulation defects. This article describes the case of a 5-day-old infant who presented to the emergency department with hyperbilirubinemia, anemia, and ecchymoses from birth trauma. His hospital course is described, along with a review on the background, evaluation, management, and complications of hemophilia A.
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PMID:Neonatal hyperbilirubinemia: an unexpected cause. 1805 44

A 60-year-old man demonstrated a bleeding tendency at enterostomy about 7 months after aortic arch replacement. Abdominal muscle hematoma and pelvic hematoma were also detected. He was diagnosed as having acquired hemophilia A based on prolonged APTT (65.9 sec), reduced FVIII activity (>1%), and the presence of FVIII inhibitor (19.5 BU/ml). Severe anemia was recognized. Recombinant activated factor FVIII (9.6 mg) was administered 25 times, combined with steroid pulse therapy. Usually postoperative acquired hemophilia is recognized in the immediate postoperative period or about 3 months later, while in this case, acquired hemophilia appeared 7 months postoperatively.
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PMID:[Acquired hemophilia A with rectus abdominis muscle and intrapelvic hematomas after aortic arch replacement]. 2137 75

We report a case of an 82-year-old woman with senile dementia who was hospitalized at a specialist dementia hospital for 10 months. She had swelling of the left shoulder joint, subcutaneous hematoma in the left upper arm, and anemia was noted on blood examination. Her serum hemoglobin level was lower than normal at 4.6 g/dL, but there was no sign of gastrointestinal disease or gastrointestinal bleeding, and her stool specimens were negative for occult blood. Hematoma subsequently appeared on her chest and back. She had a low activation level of factor VIII (<1%), a high concentration of acquired inhibitors of factor VIII (18.5 BU/mL), and prolonged activated partial thromboplastin time (83.1 seconds). The possibility of drug-induced anemia or hematoma were ruled out. We diagnosed acquired hemophilia A (AHA), and suspected that this was the cause of her hematomas. We began treatment of her AHA with oral prednisolone and intravenous infusion of factor VIII. The bleeding improved, but she later died due to bacterial pneumonia. AHA is very rare, with a reported annual incidence of 0.1/100,000 in Japan. However, it is necessary to consider such a rare disease when we encounter bleeding in elderly patients.
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PMID:[An elderly patient with senile dementia showing acquired hemophilia A]. 2177 37


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