Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study of the indices of iron metabolism in 29 patients with hereditary hemorrhagic telangiectasia revealed a decrease in the level of serum iron, an increase in serum latent and total iron-binding capacity values. The level of blood transferrin studied by radial immunodiffusion was elevated. The level of ferritin in the absolute majority of patients was decreased. The obtained results were indicative of the development of true iron deficiency in the body.
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PMID:[Changes in iron metabolism in Osler-Rendu disease]. 272 10

We successfully treated a 33-year-old woman with etoposide who developed systemic sclerosis (SSc)-associated refractory hemophagocytic syndrome (HPS). She had been diagnosed as SSc because she had had Raynaud's phenomenon, proximal scleroderma, telangiectasia, microstomia, thickening and shortening of lingual frenulum and positive antinuclear antibody since 1994. In September 1999, she showed high fever, anemia, thrombocytopenia, elevation of serum lactate dehydrogenase (LDH) and ferritin levels and hemophagocytosis in her bone marrow, which led to the diagnosis of HPS. Her symptoms were improved by 40 mg of daily oral prednisolone (PSL). While tapering PSL, she complained right coxalgia and magnetic resonance image (MRI) depicted avascular necrosis (AVN) of right femoral head. In May 2000, she again suffered from HPS when she was taking 19 mg of PSL daily. To avoid the development of another AVN of her bone, she was treated with monthly cyclophosphamide (CPA) pulse therapy (300-400 mg/day). Although her HPS transiently ameliorated with CPA, it flared up again with high fever, general fatigue, severe pancytopenia and extremely high serum LDH and ferritin levels after the 4th CPA pulse therapy. She was admitted again to our hospital and PSL was increased to 40 mg daily which did not improve HPS. We, therefore, treated her with intravenous etoposide (100 mg/day, three consecutive days) along with granulocyte-colony stimulating factor (G-CSF). She developed transient bone marrow suppression, but her laboratory data gradually normalized within two weeks and she became afebrile after 18 days of etoposide administration. This is the first case in the literature which suggests the efficacy of etoposide against refractory autoimmune-associated hemophagocytic syndrome.
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PMID:[Etoposide ameliorated refractory hemophagocytic syndrome in a patient with systemic sclerosis]. 1246 23

A 43-year-old woman presented with complaints of exfoliation of the skin and mottled pigmentation all over the body, intolerance to sunlight for the last 14 years, and swelling on the lower one-third of the neck for 15 years. She was apparently well until the age of 29 years when she noticed redness on her shins which later progressed to involve the upper limbs, chest, and face. Three months later, she observed multiple, small, brownish plaques over the erythematous areas, which gradually spread to the sun-exposed areas, namely the face, forearms, hands, and nape of the neck. The erythema disappeared within 5 months of onset. The patient experienced redness of the face, intolerance to the sun, and reduced sweating, particularly during the summer. There was no history of bullous eruption, difficulty during deglutition, tremors, or pedal edema. She suffered five miscarriages and, ultimately, was successful in delivering a normal boy who is now 16 years of age. She had menarche at the age of 14 years and her menstrual cycle was regular. There was no history of similar illness in the family. On cutaneous examination, the skin on the face, neck, trunk, buttocks, and limbs was found to be dry, lusterless, thin, and covered with fine scales. Mottled hyperpigmentation was observed all over the body. Atrophy and telangiectasia were seen over the neck (Fig. 1), face (Fig. 2), nape of the neck, upper and lower limbs, back, and chest. Mild erythema was observed over the face, nose, ears, and forearms. The hair on the scalp, eyebrows, axillae, and pubic area was sparse and thin. The teeth were loose and discolored due to caries, and a foul odor emanated from the mouth. The nails were lusterless and centrally depressed. The thyroid gland was enlarged, smooth, nontender, and moved with deglutition. No bruit was heard over it. No ocular abnormality was detected. The patient had a haemoglobin level of 7.6 g%, total serum iron binding capacity of 70 micromol/L (normal, 45-66 micromol/L), and serum ferritin level of 10 microg/L (normal, 15-200 microg/L). Peripheral blood smear showed hypochromic microcytic red blood cells. Total and differential leukocyte counts, erythrocyte sedimentation rate (ESR), blood glucose, serum electrolytes, total and differential serum proteins, liver function tests, blood urea, and microscopic examination of urine and stools were within normal limits. The thyroid profile and complement C3 and C4 levels were within normal limits. Rheumatoid factor, antinuclear factor and LE cells were absent. Abdominal ultrasonogram was normal. Fine needle aspiration cytology from the thyroid gland showed features suggestive of colloid goiter. Skin biopsy revealed thinning of the epidermis, flattening of the rete ridges, and hydropic degeneration of the basal cell layer. The dermis was edematous with dilated capillaries, melanophages, and a band-like mononuclear infiltrate. The sweat glands were reduced in number.
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PMID:Late-onset Rothmund-Thomson syndrome. 1747 79

Among diagnostic progress over the last three years in internal medicine, Antisynthetase Syndrome is now more easily recognised with the diffusion of laboratory tests for research of antibodies against tRNA synthetases (Anti JO1, anti PL7, Anti PL12). In two third of cases, these antibodies are found despite absence of antinuclear antibodies. Hence, we have to search them specifically in patients with polyarthritis associated with myositis, cutaneous manifestations (Raynaud phenomenom and "mechanic'hands") and interstitial lung disease. Discovery of asymptomatic mutation in the L ferritin coding sequence help us to better understand the "unexplained" hyperferritinemia. Initially described by japonese gastroenterologists, auto immune pancreatitis in fact a part of a systemic sclerosing disease with a biochemical hallmark: in crease of a subclass of immunoglobulins G (IgG4). A new pediatric disease due to a deficiency of the interleukin1 receptor antagonist (multifocal aseptic osteitis, periostitis, stomatitis, disseminated pustulosis) help us to better understand unexplained auto inflammatory diseases. The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia.
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PMID:[What's new in internal medicine?]. 2011 57

It is estimated that one-third of the world's population is anemic, the majority being due to iron deficiency (ID). In adults, ID is associated with fatigue in the absence of anemia, restless legs syndrome, pica and, in neonates, delayed growth and development. In adolescents, ID is associated with decrements in learning and behavioral abnormalities. In the absence of a clear cause, search for a source of bleeding is indicated. No single test is diagnostic of ID unless the serum ferritin is low or the percent transferrin saturation is low with an elevated total iron binding capacity. Oral iron is considered front line therapy except for conditions such as gastric bypass, heavy uterine bleeding, inflammatory bowel disease, and hereditary hemorrhagic telangiectasia. Oral iron has many unpleasant side effects, resulting in low patient adherence. For patients intolerant of, or unresponsive to, oral iron, intravenous (IV) administration is the preferred route. While early formulations were associated with a high incidence of serious adverse events (SAEs), newer formulations are much safer with SAEs occurring very infrequently. Full replacement doses can be administered in a matter of minutes to a few hours. Nevertheless, there remains a reluctance to use IV iron due to a misunderstanding of the safety of the available formulations. IV iron is safe and effective in all clinical circumstances including pregnancy. The preponderance of published evidence suggests IV iron therapy is underutilized and we believe that IV iron should be moved forward in the treatment of ID and iron deficiency anemia (IDA).
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PMID:How we diagnose and treat iron deficiency anemia. 2640 8

In hereditary hemorrhagic telangiectasia (HHT), frequent episodes of nasal and gastrointestinal bleeding commonly lead to iron-deficiency with or without anemia. In the retrospective study presented here we assessed the iron stores, as determined by analysis of plasma ferritin, during oral and intravenous iron supplementation, respectively, in a population of iron-deficient non-anemic HHT patients who were inadequately iron-repleted by oral supplementation. A switch from oral to intravenous iron supplementation was associated with a significant increase in ferritin in this patient population.
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PMID:Effect of Intravenous Iron Supplementation on Iron Stores in Non-Anemic Iron-Deficient Patients with Hereditary Hemorrhagic Telangiectasia. 2710 80

Hepatic gene expression and gill histology were measured in sand flathead (Platycephalus bassensis) from a metal polluted estuary. The gene expression analyses were conducted on fish from two most polluted sites and a reference site. The metal-related genes were metal-regulatory transcription factor 1 (MTF1), transferrin (TF), ferriportin1 (FPN1), ferritin and metallothionein. The transcripts of MTF1, TF, and FPN1 were significantly higher in the liver of fish caught at polluted sites, suggesting these genes are potential biomarkers for environmental exposure to metal. Strong correlations were found between the transcripts of these three genes. Four types of gill lesions such as hyperplasia and lamellar fusion, epitheliocystis, telangiectasis, and deformed filament were observed in sampled fish. There was significant difference in the prevalence of epitheliocystis and telangiectasis between the fish from the polluted areas and reference area. Gill parasites were less prevalent in the flathead from polluted sites. The gill histopathological results indicated both pollutants and infections could contribute to gill lesions.
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PMID:Hepatic expression of metal-related genes and gill histology in sand flathead (Platycephalus bassensis) from a metal contaminated estuary. 2894 68