Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 23 year old female, born in 1957, was diagnosed as having idiopathic thrombocytopenic purpura at the age of 3 and treated with prednisolone during her childhood with no response. On her regular check-up in 1978, facial edema and proteinuria suggested renal disease. The family history was negative for bleeding diathesis or renal disease. Close examination revealed the following: WBC 4,200/microliters without leukocyte inclusions, RBC 3.42 x 10(6)/microliters, Hb 11.7 g/dl. PT 10.6 sec, APTT 28.9 sec. Platelet count 4,500/microliters by HEMATRAK 360, and 40 x 10(3)/microliters measured by microscopic method. Giant platelets were noted on peripheral blood smear with an average diameter of 6.1 microns. Bleeding time (Duke) was 12.0 min. Number of megakaryocytes was increased although platelet production was remarkably decreased. Results of platelet aggregation and retention tests were normal. Platelet life span (T1/2) was 2.3 days. Sensory neural hearing loss, congenital cataract, double ureter and short small intestine were also found. Chromosome analysis showed 46XX. She underwent splenectomy resulting in increase of the platelet count to 226 x 10(3)/microliters. The increased platelet count, however, gradually decreased to the initial count in 2 years although the bleeding tendency was improved. In 1987, renal function deteriorated, causing intractable hypertension. The serum creatinine was 4.8 mg/dl. The following year she developed cerebral bleeding and died 4 days after the episode. The serum creatinine was 8.6 mg/dl.
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PMID:[Macrothrombocytopenia with deafness, nephritis, cataract, short small intestine, and double ureter]. 221 83

A total of 126 children with chronic idiopathic thrombocytopenic purpura, including 35 splenectomized cases, were investigated in a long-term follow-up study, with regard to residual hematologic and immunologic abnormalities, complications and physical growth. Such hemorrhagic symptoms as petechiae, ecchymosis and epistaxis were still observed in about 22%-28% of the patients with a period of morbidity ranging from 3 to 15 years after onset. Residual thrombocytopenia below 150,000/microliters was found in 62% of patients within 5 years, 59% within 5 to 9 years and 57% within 10-14 years after onset. Other abnormalities were mild anemia, low serum level of IgA or IgM, positive antinuclear antibody, rheumatoid factor, and positive Coombs test in a small number of patients. Increased platelet-associated IgG was still obtained in patients with subnormal platelet counts whose morbid periods were 6 to 27 years after onset. Investigation of the patients by questionnaire revealed such complications as obesity, striae atrophicae, abdominal pain, headache, cataract, Perthes' disease, and cardiac complication in some patients. No apparent disturbances except for obesity were observed in their physical growth.
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PMID:Long-term follow-up study of children with chronic ITP. 275 63

As early as 1649, Jean Riolan the Younger pierced an ear drum, after which the patient's hearing improved. This occurred as a result of an accidental ear drum injury while cleaning an ear canal with an ear-spoon. In 17th and 18th centuries, several pioneers in medicine (Thomas Willis, Antonio Mario Valsalva, William Cheselden) conducted experiments in an effort to ascertain the function of the ear drum in hearing. At the end of the 18th century, ear drum perforation, like perforation of a cataract, was indiscriminately performed by itinerent quacks and "physicians" in England, France, and Germany. Ear drum perforation was performed in many places even for the healing of deaf and dumb. Astlee Cooper reported about success with ear drum perforation in 1800 and listed strict indications. He recommended the operation only in the presence of obturation of the Eustachian tube. Because of the negative results of indiscriminate ear drum perforation, the operation soon acquired a bad reputation and was not performed for decades. It was only Herrmann Schwartze who reintroduced paracentesis into the daily practice of otorhinolaryngology. He was director of the royal ENT clinic in Halle and published a trailblazing treatise on the indications, value, and success of this operation. Since physicians had soon realized that spontaneous healing tendencies of the ear drum quickly lead to closure of an artificial perforation, many physicians tried different techniques to obtain a permanent opening. Gruber resected half of the ear drum--unsuccessfully. Others put foreign bodies into the ear drum apertures, such as catgut, whalebone rods, and lead wires. In his textbook of 1845, Martell Frank first described a grommet made of gold foil. Politzer experimented with a hard rubber ring but later abandoned his attempts because of lack of success. Voltolini manufactured an open hollow ring of gold foil or aluminium, which had to be fixed at the handle of the malleur. Armstrong described a "new" therapy for chronic secretory otitis media consisting of inserting a vinyl tube into the ear drum. While he was not the inventor of the grommet, he was the first to reintroduce grommets in the middle of the 20th century. Theromoparacentesis was performed as early as 1867 by Voltolini, who performed this operation using a galvanic cautery device. After more than 100 years, the Japanese physician Saito reintroduced thermoparacentesis into the therapy of tube ventilation disorders. Paracentesis, grommet insertion, and thermoparacentesis are among the most successful treatments currently available to the ENT specialist when used properly. They are treatments with a long history.
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PMID:[Perforation of the ear drum. On the history of paracentesis and grommet insertion]. 865 36

Corneal transplantation is a highly successful procedure for restoring sight in patients with corneal disease. The most common indication for transplantation is corneal edema following cataract extraction. A common problem following corneal transplantation is astigmatism, which often requires thick lenses for correction. The excimer laser holds promise for correcting postoperative astigmatism but is not yet in wide use. Rejection is a life-long risk and is most likely to occur during the first year. Topical corticosteroids are commonly used to decrease this risk. Frank corneal rejection must be recognized early and treated with intensive topical therapy.
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PMID:Corneal transplantation. 890 Mar 54

The differential diagnosis of familial macrothrombocytopenia and idiopathic thrombocytopenic purpura (ITP) may be difficult owing to the similarities in their clinical and laboratory presentations, but it is important because of dissimilarities in their management and prognosis. We investigated two families with familial macrothrombocytopenia and granulocyte inclusion. The probands of both families presented with mild bleeding tendency, macrothrombocytopenia, normal bone marrow, and increased percentages of platelet-associated immunoglobulin G (IgG) and reticulated platelets. ITP had been misdiagnosed in both patients initially. Both probands failed to respond to steroid therapy. Family study revealed an autosomal dominant pattern of heredity in both families, with absence of Alport's syndrome-like features (hearing impairment, congenital cataract, and interstitial nephritis). All thrombocytopenic family members showed blue cytoplasmic inclusions in neutrophils on peripheral blood smears. Ultrastructurally, distinct granulocyte inclusions comprising clusters of rough endoplasmic reticulum, smooth endoplasmic reticulum, and polysomes were detected, without the presence of parallel filaments. The clinical, laboratory, and hereditary findings were consistent with a diagnosis of Sebastian platelet syndrome in both families. In conclusion, caution should be exercised when interpreting the percentages of platelet-associated IgG in thrombocytopenic patients, as overinterpretation may lead to misdiagnosis of macrothrombocytopenia as ITP. Family history is important, as familial ITP is rare, and careful examination of blood smears is essential.
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PMID:Familial macrothrombocytopenia with granulocyte inclusion: a clinical and laboratory problem. 950 47

Scanning electron microscopy of the lenses from transgenic mice (TG(72)) containing the HIV-1 protease linked to the lens alphaA-crystallin promoter showed structural changes around postnatal day 16. Frank opacification of the lens was observed at day 24. To relate the biochemical and biophysical changes that occur during the process of cataract development, high-resolution two-dimensional gel electrophoresis (2D), quantitative image analysis and ion measurements were carried out on lenses from postnatal day 10 and on days 15-24. The phase separation temperature (Tc), a measure of molecular interactions between proteins, was also determined for normal and transgenic lenses. A comparison of the transgenic and normal lenses on day 10 revealed no significant differences in any of the measured parameters. However, starting around day 16 or the first stage of observed structural changes, the TG(72)crystallin profiles of the alphaA- alphaB-, betaA3-, betaA4-, betaB3 and one gamma-crystallin began to deviate from the normal. By postnatal day 20, a second stage was initiated with an influx of calcium and sodium ions that was accompanied by modifications of betaB1- and betaB2-crystallin. In the third and final stage of the cataract process, a large increase in the proteolysis of crystallins was accompanied by the appearance of the frank cataract on day 24. The Tc initially increased in all of the mouse lenses until just prior to eyelid opening. After that time, the Tc decreased in all lenses. Although the Tc continued to decrease in the normal lenses with age, for the homozygous transgenic mice it exhibited a dramatic increase that began on day 20. Thus, in the TG(72)transgenic mouse, cataract formation occurs in a three-stage process. Tc and other biophysical parameters previously measured appeared to be insensitive to the modifications that occur during stage 1. However, during the second stage of cataract formation, there was a correspondence between abnormal Tc and the abnormal interactions between cellular constituents apparently resulting from lens hydration, the loss of ion homeostasis and continued proteolysis. The last stage of cataract formation results in a total loss of lens transparency and leakage of lens proteins.
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PMID:Three distinct stages of lens opacification in transgenic mice expressing the HIV-1 protease. 1116 27

We report a case of 58-year-old man who had repeated cardiac arrests on the first post-operative day. The patient underwent splenectomy due to ITP (idiopathic thrombocytopenic purpura). He also had diabetes mellitus and nephrotic syndrome. There was no abnormal finding at the preoperative examination, except bleeding time of 6 minutes. The operation was finished without complications under general anesthesia. Midnight on the day of surgery, the first cardiac arrest occurred, and lasted for about 10 seconds. He recovered soon from the incident, but at 6 o'clock next morning, he developed severe bradycardia and cardiac arrest. He recovered again, but around 10 o'clock, he developed bradycardia and arrest again, and fell into a fit of convulsions and lost his consciousness. Again he recovered soon and no bradycardia and cardiac arrest occurred after this episode. Two years later, he was scheduled for vitrectomy due to diabetic retinosis. There were a few PACs and PVCs in his Holter-ECG, but no typical bradycardia and ST changes. During the operation, we injected atropine sulfate, dopamine hydrochloride and bucladesine sodium to increase his heart rate above 60 per minute. The operation was finished smoothly and there was no trouble perioperatively. A year later, he also underwent bilateral cataract extraction under local anesthesia without any troubles.
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PMID:[Recurrent cardiac arrest after splenectomy in a patient with ITP and diabetes mellitus]. 1192 91

When corticosteroid therapy, immunoglobulin and splenectomy fail to control chronic idiopathic thrombocytopenic purpura and the risk of bleeding remains high, romiplostim is an acceptable option but close monitoring is needed to evaluate long-term risks. Eltrombopag (Revolade, GlaxoSmithKline) is a synthetic non-peptide agonist of endogenous receptors for thrombopoietin, a platelet growth factor. Clinical evaluation of eltrombopag in this setting is mainly based on a double-blind placebo-controlled trial in a heterogeneous group of 114 patients. The platelet count rose to at least 50,000/mm3 for five weeks in about one-quarter of patients receiving oral eltrombopag 50 mg/day. An indirect comparison providing weak evidence suggests that romiplostim is more effective. Clinical trials did not provide evidence that either drug reduced the frequency of bleeding. The haematological risks associated with eltrombopag are poorly evaluated, and mainly include: thrombosis, bone marrow disorders, and aggravation of thrombocytopenia after drug withdrawal. Aggravation of myelodysplastic syndrome cannot be ruled out in the long term. Hepatic disorders such as photosensitisation are frequent. The risk of cataract formation and renal impairment requires further study. There appears to be a high risk of pharmacokinetic interactions through a variety of mechanisms, including enzyme competition and cation binding, but this risk is not well documented. Eltrombopag is administered orally, making it more convenient than romiplostim, which necessitates weekly subcutaneous injections. In practice, when standard treatments fail in patients with chronic idiopathic thrombocytopenic purpura and a high risk of bleeding, it is better to use romiplostim, which appears to be somewhat more effective than eltrombopag. Eltrombopag also seems to carry a higher risk of non-haematological adverse effects and drug interactions.
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PMID:Eltrombopag. Idiopathic thrombocytopenic purpura after treatment failure: romiplostim is a better option. 2045 33

Eltrombopag is currently the only US Food and Drug Administration-approved thrombopoietin receptor agonist for the treatment of chronic immune thrombocytopenia (ITP) in children. This oral, once-per-day therapy has shown favorable efficacy and adverse effect profiles in children. Two multicenter, double-blind, placebo controlled clinical trials (PETIT [Efficacy and Safety Study of Eltrombopag in Pediatric Patients With Thrombocytopenia From Chronic Idiopathic Thrombocytopenic Purpura (ITP)] and PETIT2 [Study of a New Medication for Childhood Chronic Immune Thrombocytopenia (ITP), a Blood Disorder of Low Platelet Counts That Can Lead to Bruising Easily, Bleeding Gums, and/or Bleeding Inside the Body]) demonstrated efficacy in raising platelet counts, reducing bleeding, and reducing the need for concomitant ITP therapies with relatively few adverse effects. The most commonly reported drug-related adverse effects include headache, nausea, and hepatobiliary laboratory abnormalities. Long-term safety data in children are limited, and studies in adults have not revealed a clinically significant increased incidence of thrombosis, marrow fibrosis, or cataract formation. Eltrombopag has also been approved for treating refractory severe aplastic anemia (AA) and has potential for expanded use in ITP and severe AA as well as in other conditions associated with thrombocytopenia.
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PMID:Eltrombopag for use in children with immune thrombocytopenia. 2948 60