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

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.
 ...
PMID:Long-term follow-up study of children with chronic ITP. 275 63

Sebastian platelet syndrome is an hereditary thrombocytopenia with giant platelets and inclusion bodies in the granulocytes consisting of dispersed filaments, clusters of ribosomes and a few segments of rough and smooth endoplasmic reticulum at the ultrastructural level, similar to those observed in Fechtner syndrome (a variant of the Alport syndrome)--Sebastian platelet syndrome lacks the additional clinical features such as high frequency deafness, congenital cataract, and chronic interstitial nephritis. Here we report the fourth case worldwide and the first of an Arabian ancestry.
 ...
PMID:The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient. 756 53

Lifetime follow-up of USTUR Case 246 demonstrated the lack of severe biological effects resulting from his exposure to 241Am. Deterministic effects observed were limited to hematological changes, including lymphopenia and thrombocytopenia. These hematological changes were consistent with those observed in experimental animals following actinide exposure. Cataracts were removed from the left and right eyes at 547 and 1,030 d after the accident, respectively, but were considered to be trauma-induced rather than radiation-induced. No abnormal findings were reported from gross or histological examinations of tissue samples removed at autopsy, other than those resulting from the subject's preexisting cardiovascular disease.
 ...
PMID:Deterministic effects of 241Am exposure in the Hanford Americium accident case. 763 30

In 4 children, two boys aged 15 and two girls aged 17 years, thrombocytopenia was found with thrombocyte size of about the diameter of an erythrocyte, so called giant platelets. In 3 of the patients no signs of increased bleeding tendency were present, while the fourth had bruises, small stature and subnormal hearing. The 50-year-old father of 2 of the patients (a brother and sister) had thrombocytopenia with giant platelets as well. The patients without an increased bleeding tendency were advised to carry a 'medical alert.' Thrombocytopenia with giant platelets can be part of a hereditary syndrome in which other organ systems may be involved, e.g., kidneys, ears (hearing loss) or eyes (cataract). Morphological assessment of thrombocytes in children with chronic thrombocytopenia can contribute to the prevention of ineffective therapy (corticosteroids, gammaglobulin, splenectomy).
 ...
PMID:[Blood platelets in children too few and too large: the giant platelet syndromes]. 1057 37

Many infants with intrauterine growth retardation (IUGR) are screened for TORCH infections. The yield and costs of such a practice may not be justifiable. Medical charts of infants with IUGR who had a workup for toxoplasmosis, other (infections), rubella, cytomegalovirus (infection), and herpes (simplex) (titer) (TORCH) infections were reviewed for the presence of clinical findings, laboratory and head ultrasound abnormalities associated with intrauterine infections. Maternal charts and reports of placental pathology were reviewed for identifying maternal illnesses and placental causes associated with IUGR. Seventy-five out of 182 infants (41%) with IUGR had a workup for TORCH infection. Maternal conditions associated with IUGR included: pregnancy-induced hypertension (19%), tobacco use (43%), alcohol abuse (21%), illicit drug use (24%), chronic hypertension, diabetic vasculopathy or collagen vascular disease (12%), and multiple gestation (3%). Placental pathology was available in 53/75 cases. Thirty-six of fifty-three (67%) placentae had abnormalities associated with IUGR: placental infarcts (22 of 36), vasculitis/villitis (15 of 36), placenta previa (1 of 36), abruptio placenta (2 of 36), and velamentous insertion of umbilical cord (1 of 36). Clinical findings among infants included hepatosplenomegaly, cataract or rash (1 of 75), thrombocytopenia and/or neutropenia and/or direct hyperbilirubinemia (11 of 75). Seven out of 75 infants had dysmorphic features. None of the infants (0 of 75) had positive IgM titers for toxoplasma, rubella, cytomegalovirus (CMV), or herpes simplex virus (HSV). No infants (0 of 43) had elevated total IgM titers; one infant (1 of 57) had a positive urine culture for CMV. One infant had evidence of calcifications on head ultrasound and a second infant had hydrocephalus (2 of 43). The costs associated with workup for TORCH infections among 75 infants included: TORCH titers determination: $17,816, total IgM titers: $1318, urine culture for CMV: $5734, and head ultrasound: $28,165. The yield of workup for TORCH infection among infants with IUGR is poor and does not justify the incurred costs.
 ...
PMID:Yield and costs of screening growth-retarded infants for torch infections. 1101 37

May-Hegglin anomaly is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and unique leukocyte inclusion bodies. This disorder was first described by May, a German physician, in 1909, and was subsequently described by a Swiss physician, Hegglin, in 1945. The pathogenesis of the disorder had been unknown until recently, when mutations in the gene encoding for nonmuscle myosin heavy chain IIA (MYH9) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes. It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. Interestingly, MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocytes inclusion, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract. Current interest is centered upon the mechanisms by which a single mutation causes a variety of phenotypes.
 ...
PMID:Historical hematology: May-Hegglin anomaly. 1797 7

The thrombopoiesis-stimulating agents (TSAs) are a novel class of drugs for the treatment of chronic immune thrombocytopenia (ITP). Roimplostim and eltrombopag, the first two TSAs to enter clinical use, received regulatory approval in 2008 and stand poised to change the treatment paradigm in ITP. However, important questions regarding the safety of these agents, particularly with long-term use, remain partially unanswered. The primary objective of this article is to review the reported toxicities associated with the TSAs including rebound thrombocytopenia, thrombosis, hepatotoxicity, formation of neutralizing antibodies, bone marrow fibrosis, hematologic malignancy, cataract formation, and common adverse events. The incidence and severity of these toxicities as well as strategies for monitoring patient safety and pharmacovigilance are discussed.
 ...
PMID:Safety of the thrombopoiesis-stimulating agents for the treatment of immune thrombocytopenia. 1953 37

MYH9-related disorders are rare causes of chronic kidney disease (CKD) presenting as chronic glomerulonephritis and derive from mutations of the MYH9 gene, which encodes for the nonmuscle myosin heavy chain IIA. These disorders are autosomal dominant and include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. Diagnosis of these disorders is made first in early childhood because of the characteristic peripheral-blood smear findings of thrombocytopenia, giant platelets, and variably detected basophilic cytoplasmic inclusion bodies in leukocytes. CKD typically develops later in adulthood and may progress to end-stage renal disease. MYH9-related disorders may be associated with deafness and cataract; hence, Alport syndrome becomes important in the differential diagnosis. However, the autosomal dominance pattern of inheritance and characteristic peripheral-blood smear findings in the former help differentiate the two conditions. New evidence suggests that MYH9 gene alterations also are associated with a greater risk of focal segmental glomerulosclerosis and hypertensive nephrosclerosis in African Americans. The purpose of this review is to focus on the known, but rarely recognized association of MYH9-related disorders with CKD and highlight the recent discoveries related to the MYH9 gene that may explain the reason for a high CKD burden in African Americans.
 ...
PMID:CKD in MYH9-related disorders. 1972 16

MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients' leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9-RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9-RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9-RD.
 ...
PMID:Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 2017 60

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.
 ...
PMID:Eltrombopag. Idiopathic thrombocytopenic purpura after treatment failure: romiplostim is a better option. 2045 33


1 2 3 Next >>