1/137. Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/137. Watermelon-stomach as a cause of chronic iron deficiency anemia in a patient with systemic sclerosis.Watermelon-stomach is a rare cause of gastrointestinal bleeding. There has been an increasing number of reports on the association of this lesion with diseases of the scleroderma group, causing chronic, sometimes severe gastrointestinal blood loss. The present report presents the case of a 75-year-old female with limited cutaneous systemic sclerosis and watermelon-stomach, which was the cause of her long-standing sideropenic anemia.- - - - - - - - - - ranking = 0.66666666666667keywords = deficiency (Clic here for more details about this article) |
3/137. gastrointestinal tract evaluation in patients with iron deficiency anemia.iron deficiency anemia is the most common form of anemia encountered in clinical practice and is an extremely common manifestation of chronic occult gastrointestinal bleeding. Current evidence suggests that a large proportion of men and postmenopausal women with iron deficiency anemia harbor significant gastrointestinal tract pathological lesions as the source of blood loss. As such, the evaluation of patients with iron deficiency anemia is generally focused on the gastrointestinal tract. Importantly, the diagnosis of iron deficiency anemia should be firmly established before an extensive evaluation is undertaken. Management strategies for patients with iron deficiency anemia are reviewed; an important general point is that clinical features (ie, symptoms) may help direct specific investigation. The role of small-intestinal investigation in patients with iron deficiency anemia is controversial and should probably be reserved for patients with iron deficiency anemia and persistent gastrointestinal symptoms or those who fail to respond to appropriate therapy. The treatment and prognosis of patients with iron deficiency anemia and the majority of gastrointestinal tract lesions are straightforward. However, patients with vascular ectasias as the source of blood loss can represent a true management challenge.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
4/137. Primary biliary cirrhosis associated with type A gastritis and chronic thyroiditis.We report a patient with primary biliary cirrhosis (PBC) associated with type A gastritis, chronic thyroiditis, and iron deficiency anemia. The patient was a 45-year-old Japanese woman who was admitted to our hospital with severe microcytic and hypochromic anemia, abnormal results for liver function tests, and a diffuse goiter. The diagnosis of PBC (Scheuer's stage II) was confirmed by the presence of specific anti-mitochondrial antibody in high titers and histological examination showing chronic non-suppurative destructive cholangitis with bridging fibrosis. Additionally, marked atrophic mucosa throughout the body and fundus of the stomach was observed endoscopically, and there was positivity for intrinsic factor antibody, an extremely low ratio of serum pepsinogen a to C, and hypergastrinemia, indicating coexisting type A gastritis. The severe anemia was thought to be caused by failure of dietary iron absorption related to achlorhydria with this gastritis. However, the serum level of vitamin B12 was normal. She also had autoimmune thyroiditis. PBC is frequently associated with extrahepatic autoimmune diseases, including ductular lesions. However, the association of PBC with type A gastritis is quite rare, although the stomach is also an exocrine glandular structure. This particular case, in addition to previous reports, leads to a discussion of whether type A gastritis should be regarded as a possible, although uncommon, component disorder of so-called dry gland syndrome.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
5/137. Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption.PURPOSE: In 1981, Buchanan and Sheehan described a previously unreported syndrome in three siblings who had iron malabsorption, hypoferremia, and microcytic anemia that did not respond to oral iron and responded only partly to parenteral iron dextran. Ferrokinetic studies were not done in these or subsequently reported patients with this syndrome. It has been postulated that this syndrome of abnormal iron metabolism is analogous to that observed in the mk/mk mouse, which has similar hematologic findings but also has abnormal ferrokinetics. Ferrokinetic studies were performed in one patient to determine whether the abnormality of iron metabolism in the human syndrome is analogous to the mk/mk mouse. patients AND methods: Two sisters with severe microcytic anemia and iron malabsorption who have had only partial response to parenteral iron have been followed up for 15 years. Ferrokinetic studies with 59Fe were performed in one sister. RESULTS: Ferrokinetic studies with radio iron were characteristic of iron deficient erythropoiesis (rapid 59Fe T1/2; rapid, complete incorporation of 59Fe into erythrocyte hemoglobin). These ferrokinetics differ from those of the mk/mk mouse, which has a missense mutation in Nramp2, a putative iron transporter protein. In these children, once iron enters the plasma its subsequent metabolism (including binding to transferrin), transfer into erythroid bone marrow cells, and subsequent incorporation into erythrocyte hemoglobin are all normal. The defect in these patients appears to be an undefined, novel abnormality that governs mobilization of iron into the plasma from both the intestinal mucosal and reticuloendothelial cells. Despite lifelong severe hypoferremia, the growth, development and intellectual performance of these children, who are teen-agers, are normal.- - - - - - - - - - ranking = 0.00010386764290235keywords = protein (Clic here for more details about this article) |
6/137. anemia: a cause of intolerance to thyroxine sodium.Usual causes of intolerance to thyroxine sodium include coronary artery disease, advanced age, untreated adrenal insufficiency, and severe hypothyroidism. We describe 4 patients with iron deficiency anemia and primary hypothyroidism. After treatment with thyroxine sodium, these patients developed palpitations and feelings of restlessness, which necessitated discontinuation of the thyroid hormone. After the anemia was treated with ferrous sulfate for 4 to 7 weeks, they were able to tolerate thyroxine sodium therapy. iron deficiency anemia coexisting with primary hypothyroidism results in a hyperadrenergic state. In such patients, we postulate that thyroid hormone administration causes palpitations, nervousness, and feelings of restlessness. Correction of any existing pronounced anemia in hypothyroid patients who are intolerant to thyroxine sodium therapy may result in tolerance to this agent.- - - - - - - - - - ranking = 0.33333333333333keywords = deficiency (Clic here for more details about this article) |
7/137. Histological estimation of the efficacy of endoscopic laser coagulation therapy for diffuse antral vascular ectasia.We present the case of a 72-year-old woman with successful control of repeated episodes of bleeding from diffuse antral vascular ectasia (DAVE) by laser coagulation therapy. In addition to DAVE, the patient also suffered from severe iron deficiency anaemia (due to recurrent bleeding), liver cirrhosis, and huge tumours of hepatocellular carcinoma (HCC). She was referred from another hospital after failure to stop her bleeding episodes. Endoscopic examination revealed diffuse speckled telangiectasia over most of the stomach (from antrum to the upper portion of the body) and large numbers of blood clots. The patient had received repeated blood transfusions, haemostatic drugs, and H2 receptor antagonists at the other hospital, without improvement of the repeated bleeding. She underwent three sessions of endoscopic laser coagulation therapy for the lesions at our hospital after the final diagnosis of DAVE had been made based on the characteristic histological findings of biopsied specimens. This treatment improved her general condition and stopped the bleeding from the gastrointestinal tract even without fasting. Unfortunately, however, her liver function gradually worsened due to HCC and previous massive bleeding, and she finally died of liver failure three months after the last laser session. Autopsied specimens obtained from the patient's stomach revealed that macroscopic diffuse speckled telangiectasia and microscopic typical vasodilatation in mucosal and submucosal layers of gastric tissue had disappeared in the treated areas but not all portions of the DAVE lesion. These histological findings for the treated areas, in addition to the clinical improvement of bleeding, suggest that endoscopic laser coagulation therapy may be useful and one of the first choices in treatment for DAVE.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
8/137. The combined occurrence of macular amyloidosis and prurigo nodularis.The association of prurigo nodularis (PN) and macular amyloidosis (MA) has not been reported before. Although pruritus related frictional trauma is a well-known cause of PN, its role in the development of MA has always been questioned. We herein report two cases with chronic liver disease and iron deficiency who concomitantly developed MA and PN lesions. pruritus was the preceding factor and both lesions were confined to scratched areas. The association of two otherwise uncommon dermatoses in pruritic patients and their characteristic distribution might indicate an important role for pruritus-induced scratching in the pathogenesis of MA, too.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
9/137. chloroquine in idiopathic pulmonary hemosiderosis. A case report.This report describes an 11-year-old boy with idiopathic pulmonary hemosiderosis. His only presenting symptom was severe anemia due to iron deficiency. Idiopathic pulmonary hemosiderosis was diagnosed nine years after the onset of symptoms. During this period many invasive and non-contributory investigations were performed. This report describes the patient's diagnostic problems, clinical features and dramatic improvement with chloroquine (250 mg/day) after failing to respond to megadose methylprednisolone (30 mg/kg). One year later, chloroquine was discontinued. The patient has remained in remission since March 1994. chloroquine should be used for this life-threatening condition since it is less toxic than other immunosuppressive drugs.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
10/137. Blue rubber bleb nevus syndrome.The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
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