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)

POEMS syndrome is defined by the presence of a peripheral neuropathy (P), a monoclonal plasma cell disorder (M), and other paraneoplastic features, the most common of which include organomegaly (O), endocrinopathy (E), skin changes (S). Not all features of the disease are required to make the diagnosis. We report a case of POEMS syndrome in a 50-year-old female who presented with weakness, abdominal swelling and history of red cell transfusions. Because of the hepatosplenomegaly (Schuffner VII) we diagnosed her as chronic myelocytic leukemia (CML) or myelofibrosis. Her peripheral blood smear did not show granulopoiesis maturation from myeloblast nor leukoerytroblastic feature which was characteristic of CML and myelofibrosis. We found also anemia, peripheral motoric neuropathy and hyperpigmentation at her legs. The protein electrophoresis showed monoclonal gammopathy on b2 globulin. Bone marrow examination showed normal plasma cells. There was no lytic or sclerotic lesion on Schedel and tibia x-ray. The echocardiography showed pulmonary hypertension, pulmonary regurgitation, right and left ventricle hypertrophy with normal ejection fraction (50%). She was treated with melphalan 10 mg/m2 (day 1-4) and prednisone 60 mg/m2 (day 1-4) every 6 weeks with packed red cells transfusion. After 3 cycles the monoclonal protein was reduced from 35.5% to 26.1% (normal 2-5%) without changes in her spleen size. Until then she continued on melphalan and prednisone treatment. Although POEMS syndrome is a rare disease, it should be considered in patient with hepatosplenomegaly, especially if accompanied by peripheral neuropathy.
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PMID:POEMS syndrome: a rare case of monoclonal plasmaproliferative disorder. 2051 35

Traumatic intravascular hemolysis after heart valve replacement can be a serious problem. It is commonly associated with either structural deterioration or paravalvular leaks. A 63-year-old woman with a six-year history of surgery for mitral stenosis presented with complaints of weakness and dyspnea. She received treatment at other centers three times in the past six months for dyspnea and anemia requiring transfusion of red blood cells. Transthoracic echocardiography showed a normally functioning mitral mechanic prosthesis. Laboratory findings were abnormal for hemoglobin, hematocrit, white blood cell count, C-reactive protein, serum haptoglobin, and lactate dehydrogenase. Peripheral blood smear showed marked schistocytes, indicative of mechanical erythrocyte destruction. Transesophageal echocardiography demonstrated severe paravalvular leak and a large (9x13 mm) vegetation adhering to the prosthetic valve, protruding into the left atrium. Enterococcus faecalis was isolated from blood cultures. Surgery was planned because of large vegetation, repeated hemolysis, and severe paravalvular regurgitation, but the patient refused surgical treatment.
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PMID:Hemolysis and infective endocarditis in a mitral prosthetic valve. 2120 Jan 25

Malaria during first few months of life may be due to transplacental transfer of parasitized maternal erythrocytes. The most common clinical features of congenital malaria are fever, anaemia and splenomegaly. Other signs and symptoms include hepatosplenomegaly, jaundice, regurgitation, loose stools, and poor feeding. A 28 year old woman (G2P1A), with 36 weeks gestation, reported to a health facility in Sunyani on 22(nd) February 2009 with history of labour pains, without fever. According to the mother, even though she did not sleep in insecticide treated bed net during her pregnancy, she took all the recommended drugs of sulfadoxine/ pyrimethamine-intermittent preventive treatment for malaria. She delivered twins on the same day. The mother and the twins developed fever on the same day. A laboratory investigation on the three of them was positive for malaria parasites. The three were successfully treated with quinine. Congenital malaria is real and it is therefore recommended that babies born to mothers with malaria should be screened for congenital malaria.
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PMID:Congenital malaria in newborn twins. 2132 8

We herein report a case of a 71-year-old male with untreated multiple myeloma (MM) and congestive heart failure due to moderate mitaral regurgitation, who successfully underwent mitral valve replacement and tricuspid annuloplasty. MM has various complications such as bleeding tendency, anemia, renal dysfunction, hyperviscosity syndrome, and susceptibility to bacterial infection. Considering bleeding tendency and post-operative anti-coagulant therapy, a bioprosthesis was chosen in this case. The postoperative course was uneventful. When cardiac surgery is indicated in patients with MM, we must carefully consider and manage the specific perioperative problems and indications for cardiac procedures.
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PMID:[Mitral valve replacement in a patient with multiple myeloma]. 2138 16

We report a case of a patient affected by compound heterozygosis for two PK-LR gene mutations: p.R486W (c.1456C>T) and p.M403I (c.1209G>A). Our patient suffered from an initial moderate hemolytic anemia which subsequently evolved into a severe form after mitral prosthetic valve replacement for valve regurgitation. Thereafter, the clinical features evolved into a worsening of anemia, heart failure and pulmonary hypertension, in the absence of valve dysfunction. This clinical picture improved only after an intensive transfusion regimen. This case highlights aspects concerning the intricate balance between the risks and benefits of a mechanical prosthetic valve implant in PK-deficient patients.
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PMID:Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement. 2182 Oct 16

Intestinal or cloacal strictures that resulted in intestinal obstruction were diagnosed in six green sea turtles (Chelonia mydas) from three rehabilitation facilities and two zoologic parks. The etiologies of the strictures were unknown in these cases. It is likely that anatomic adaptations of the gastrointestinal tract unique to the green sea turtle's herbivorous diet, paired with causes of reduced intestinal motility, may predispose the species to intestinal damage and subsequent obstructive intestinal disease. In aquarium-maintained green sea turtles, obesity, diet, reduced physical activity, chronic intestinal disease, and inappropriate or inadequate antibiotics might also be potential contributing factors. Clinical, radiographic, and hematologic abnormalities common among most of these sea turtles include the following: positive buoyancy; lethargy; inappetence; regurgitation; obstipation; dilated bowel and accumulation of oral contrast material; anemia; hypoglycemia; hypoalbuminemia; hypocalcemia; and elevated creatine kinase, aspartate aminotransferase, and blood urea nitrogen. Although these abnormalities are nonspecific with many possible contributing factors, intestinal disease, including strictures, should be considered a differential in green sea turtles that demonstrate all or a combination of these clinical findings. Although diagnostic imaging, including radiographs, computed tomography, or magnetic resonance imaging, are important in determining a cause for suspected gastrointestinal disease and identifying an anatomic location of obstruction, intestinal strictures were not successfully identified when using these imaging modalities. Lower gastrointestinal contrast radiography, paired with the use of oral contrast, was useful in identifying the suspected site of intestinal obstruction in two cases. Colonoscopy was instrumental in visually diagnosing intestinal stricture in one case. Therefore, lower gastrointestinal contrast radiography and colonoscopy should be considered in green turtles when gastrointestinal obstructions are suspected. Although partial strictures of the cloacal opening may be identified on gross examination and might be managed with appropriate medical treatment, surgical intervention or humane euthanasia are likely the only options for sea turtles once small or large intestinal strictures have formed.
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PMID:Intestinal and cloacal strictures in free-ranging and aquarium-maintained green sea turtles (Chelonia mydas). 2380 60

A counterintuitive phenomenon of survival advantage in obese patients with heart failure (HF) is called obesity paradox. In this review, we emphasize that in nearly all research papers on this subject, there were marked differences between the groups with different body mass index (BMI). Surprisingly, these differences are very consistent and mostly in favor of patients with higher BMI. Obese individuals in HF studies almost invariably were characterized by much younger age, better nutritional status, higher blood pressure, less arrhythmia, less anemia, less valvular regurgitation, better left ventricular systolic function, better lungs, and better renal function. There is no paradox in their better survival. None of the studies confirming the obesity paradox were designed as prospective studies with the purpose to find the effects of BMI on survival. All the studies represent post hoc analysis of clinical trials designed for different purposes, or retrospective studies, or analysis of registries. Multiple baseline differences of subgroups with different BMI likely contribute to the obesity paradox, because not all variables influencing the outcomes can be accounted for.
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PMID:Anatomy of the obesity paradox in heart failure. 2403 86

Giant esophageal and hypopharyngeal polyps are benign tumors rarely encountered in clinical practice. In most cases, they are completely asymptomatic; however, despite the rarity of these tumors, interest in giant esophageal polyps derives from their degree of growth (characterized by slow growth into the esophageal lumen) and their mobility. In fact, if regurgitation occurs, they can ascend into the oral cavity and be aspirated into the airways, with potentially lethal consequences. The removal of these giant polyps is recommended. An adequate preoperative evaluation to identify the correct origin of the stalk is mandatory for a successful endoscopic or surgical treatment. A 60-year-old man was admitted to our hospital for anemia. The patient underwent gastroscopy, contrast computed tomography and endoscopic ultrasound. At the conclusion of the procedure, during the extraction of the echoendoscope, the patient began retching and regurgitated the polyp, without experiencing respiratory distress. The patient underwent a left cervicotomy and polyp dissection via a pharyngotomy.
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PMID:Difficult polypectomy-giant hypopharyngeal polyp: case report and literature review. 2412 43

Medical advancements have led to an increase in the number of elderly people. However, standard treatments may sometimes be difficult to use in elderly people. Here, we report the case of an elderly patient with rectal and gastric cancer who refused radical surgery. The patient was an 83-year-old man who had type-2 diabetes, hypertension, hyperuricemia, mitral valve regurgitation, and mild dementia. Furthermore, he was blind in both eyes owing to glaucoma. He first visited our hospital in 2005. In 2010, he was diagnosed with anemia, but he refused a thorough examination; however, he did consent to take iron supplements. In July 2011, he consulted our hospital for symptoms of frequent diarrhea, and agreed to an examination. After colonoscopy, he was diagnosed with rectal cancer that was becoming obstructive. There were no metastases to other organs, but he was also diagnosed with gastric cancer. As he and his family refused radical surgery, a stoma was constructed. After the operation, he received palliative care but died in September 2013.
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PMID:[Palliative Care for Rectal Cancer Complicated with Gastric Cancer]. 2680 35

An 11-year-old neutered male Alaskan Malamute mixed-breed dog was presented with a complaint of polyuria/polydipsia (PU/PD), weight loss, tachypnea, regurgitation, and a previous history of nontreated osteosarcoma of the right distal radius, diagnosed 21 months prior. On physical examination, an abdominal mass was palpated. The abdominal mass was aspirated and cytologically diagnosed as a neuroendocrine tumor, suspected to be a pheochromocytoma. Laboratory examination revealed a mild anemia and thrombocytopenia, markedly elevated ATP and ALP activities, and moderate hypercalcemia. A low-dose dexamethasone suppression test and endogenous adrenocorticotropic hormone (ACTH) concentration were compatible with pituitary hyperadrenocorticism. On urinalysis, proteinuria was noted as well as a high urine metanephrine/creatinine ratio, consistent with a diagnosis of pheochromocytoma. The dog was treated with supportive care and euthanized 6 months later due to decreasing quality of life. On necropsy, an extra-adrenal pheochromocytoma (paraganglioma) was diagnosed in the caudal abdomen, and a pituitary adenoma and an osteosarcoma of the right distal radius were confirmed.
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PMID:Paraganglioma, pituitary adenoma, and osteosarcoma in a dog. 2742 77


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