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Hypoplasminogenemia

Plasminogen deficiency type 1


Presentation

  • Abstract In the present study, the prevalence of thromboembolic events in patients suffering from type I plasminogen deficiency was evaluated.[ncbi.nlm.nih.gov]
  • Pseudomembraneous lesions are present on affected mucous membranes, such as eye, middle ear, pharynx, duodenum, oral cavity, upper and lower respiratory tracts, and female genital tract.[xpertdox.com]
  • […] contemporary overview of oral and maxillofacial pathology includes a brief description of each individual lesion or pathologic condition and the kind of pathologic process that it represents, followed by a discussion of its clinical and/or radiographic presentation[books.google.de]
  • In severe cases with possibly life-threatening multi-organ involvement, true therapeutic options are not available at present.[humpath.com]
Colic
  • Dandy-Walker anomaly - Hydrocephaly - Intestinal / colonic anomaly - Structural anomalies of middle ear / ossicles / tympanic cavity - Structural anomalies of the respiratory system and diaphragm - Urinary / renal lithiasis / kidney stones / nephritic colic[csbg.cnb.csic.es]
Gingival Overgrowth
  • Hydrocephalus may be present at birth in a small number of individuals. 0000504 Decreased level of plasminogen 0040228 30%-79% of people have these symptoms Gingival overgrowth Gum enlargement 0000212 Gingivitis Inflamed gums Red and swollen gums [3][rarediseases.info.nih.gov]
Anterior Uveitis
  • Krachmer, Mannis & Holland, is the only truly comprehensive clinical reference available that covers external disease, anterior uveitis, and the expanding range of contemporary corneal surgery.[books.google.de]
Spastic Paraplegia
  • paraplegia type 13 Distal hereditary motor neuropathy type 2 Familial Alzheimer-like prion disease Fatal familial insomnia Gerstmann-Straussler-Scheinker syndrome Huntington disease-like 1 Inherited Creutzfeldt-Jakob disease Pelizaeus-Merzbacher-like[csbg.cnb.csic.es]
Excitement
  • Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children.[books.google.de]

Workup

  • PLG testing should not be included in routine thrombophilia workup. Mehta R, Shapiro AD. Plasminogen deficiency. Haemophilia. 2008 Nov. 14(6):1261-8. [Medline]. Schuster V, Hügle B, Tefs K. Plasminogen deficiency.[emedicine.medscape.com]
Human Papillomavirus
  • NEW cutting-edge content includes pathologies and conditions such as localized juvenile spongiotic gingival hyperplasia, oral lesions associated with cosmetic fillers, oropharyngeal carcinomas related to human papillomavirus (HPV), IgG4-related disease[books.google.de]

Treatment

  • Some of the commonly used treatment methods include surgical removal of the lesions, IV corticosteroid treatment, topical treatment with heparin, corticosteroids and alpha-chymotrypsin, or cyclosporine, hyaluronidase & azathioprine.[xpertdox.com]
  • Due to the delay in product approval, subjects at the US site in Segment 3 will be allowed to enroll in treatment protocol 2002C018G and continue ongoing IMP treatment without any break in treatment.[clinicaltrials.gov]
  • Moreover, a palpebral pseudomembrane stopped growing in one patient and disappeared completely in the other while on the estroprogestinic treatment.[ncbi.nlm.nih.gov]
  • Are you waiting for a treatment? Share your thoughts, and your hopes, with the Patient Worthy community! Related[patientworthy.com]
  • Up-to-date concepts of pathogenesis and disease management help you understand the diseases that affect oral and maxillofacial structures, formulate an accurate diagnosis, and institute proper treatment.[books.google.de]

Prognosis

  • […] includes a brief description of each individual lesion or pathologic condition and the kind of pathologic process that it represents, followed by a discussion of its clinical and/or radiographic presentation, histopathologic features, and its treatment and prognosis[books.google.de]
  • The prognosis is variable, depending on the extent, location, size, and site of the lesions.[xpertdox.com]
  • Prognosis In milder cases were only the conjunctivae are involved the visual prognosis is moderate, however, the prognosis for severe cases with multiorgan involvement is very poor.[orpha.net]
  • Diagnosis - Congenital Plasminogen Deficiency Prognosis - Congenital Plasminogen Deficiency Not supplied. Treatment - Congenital Plasminogen Deficiency Resources - Congenital Plasminogen Deficiency Not supplied.[checkorphan.org]
  • Prognosis The prognosis of ligneous conjunctivitis depends on the ability to control the inflammation and recurrence of the pseudomembranes.[eyewiki.aao.org]

Etiology

  • Etiology Severe HPG is caused by homozygous or compound-heterozygous mutations in the plasminogen gene ( PLG ; 6q26).[orpha.net]
  • It has also been linked to congenital hydrocephalus and juvenile colloid milium. [1] Etiology Ligneous conjunctivitis may be inherited in an autosomal recessive pattern due to mutations in the plasminogen (PLG) gene and a variety of other genes, associated[eyewiki.aao.org]

Epidemiology

  • […] microduplication Silver-Russell syndrome due to imprinting defect of 11p15 Synonym(s): - Plasminogen deficiency type 1 Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Summary Epidemiology Prevalence of severe HPG is in the range of 1.6/1,000,000.[orpha.net]
  • Genatlas disease for PLG Gene thrombosis,recurrent,dysplasminogenemic type Relevant External Links for PLG Genetic Association Database (GAD) PLG Human Genome Epidemiology (HuGE) Navigator PLG Tumor Gene Database (TGDB): PLG Atlas of Genetics and Cytogenetics[genecards.org]
  • Linguistic Variant - Portuguese, Brazil) 2015AB LNC-RU-RU (LOINC Linguistic Variant - Russian, Russia) 2015AB LNC-TR-TR (LOINC Linguistic Variant - Turkish, Turkey) 2015AB LNC-ZH-CN (LOINC Linguistic Variant - Chinese, China) 2015AB MCM (Glossary of Clinical Epidemiologic[doctor.am]
  • However, other epidemiological studies are needed to better determine the prevalence of this deficiency. [( 2 )].[scielo.br]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.de]
  • General Pathology The histology shows ulcerated conjunctiva with sub-epithelial, amyloid-like, eosinophilic material containing clotted fibrinogen and immunoglobulins, accompanied by lymphocytes, granulocytes, and plasma cells (Figure 1). [1] Pathophysiology[eyewiki.aao.org]
  • Pathophysiology of venous thrombosis, thrombophilia, and the diagnosis of deep vein thrombosis-pulmonarycmbolism in the elderly. Clin Geriatr Med. 2006;22:75-92.[degruyter.com]

Prevention

  • Two of six patients with hypoplasminogenemia showed thrombotic events, and in one of these symptomatic cases the coexistence of factor V deficiency did not prevent the occurrence of thrombosis.[ncbi.nlm.nih.gov]
  • These management options are not completely successful in either the treatment or the prevention regrowth of lesion. The prognosis is variable, depending on the extent, location, size, and site of the lesions.[xpertdox.com]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.ro]
  • Prevention - Congenital Plasminogen Deficiency Not supplied. Diagnosis - Congenital Plasminogen Deficiency Prognosis - Congenital Plasminogen Deficiency Not supplied.[checkorphan.org]
  • […] or diagnosis of a disease or condition for which no drug is currently marketed in Canada; or A significant increase in efficacy and/or significant decrease in risk such that the overall benefit/risk profile is improved over existing therapies, preventatives[biospace.com]

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