Macular cherry-red spots were present in all adequately described type I patients and all but three patients with type II disease. [scholars.northwestern.edu]

Conclusions: The presented patients illustrate the clinical heterogeneity of neuraminidase deficiency. [bib.irb.hr]

Mental retardation, myoclonus, and cherry red spots are present. Hepatosplenomegaly is typically absent. [ismrd.org]

The age of onset is typically in the teens or later Sialidosis Type II: It is the more severe form, presenting characteristic facial features. [dovemed.com]

• Intestinal Perforation

  perforation in Behçet Syndrome: an unusual presentation. ( 30574248 ) Vicente CS...Freitas AD 2018 4 Cardiac thrombosis as a manifestation of Behçet syndrome. ( 20978571 ) Louali FE...Cherti M 2010 5 Altiner A...Mandal R 2010 6 Constitutional trisomy [malacards.org]

• Localized Scleroderma

  They are followed for familial localized scleroderma started at the age of nine, eight and five respectively. Coming from a non-consanguineous marriage, the parents and the other two brothers are apparently healthy. [gavinpublishers.com]

• Hearing Impairment

  Hearing impairment Normal level of serum hydrolases IDUA Slowly progressive MPS I 6 AR Joint stiffness Corneal clouding Cardiac abnormalities Facial coarseness Dysostosis multiplex Organomegaly Cognitive impairment Hearing impairment Normal level of [ncbi.nlm.nih.gov]

• Muscle Twitch

  twitches, lack of coordination, and seizures The more severe type II form can lead to fluid accumulation in the fetal abdomen, present coarse facial features (such as a large head, thickened skin, widely-spaced teeth), enlarged spleen and liver, bone [dovemed.com]

  Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing difficulty sitting, standing, or walking. [ghr.nlm.nih.gov]

• Myoclonus

  The condition is characterized by a cherry-red spot on the macula, progressive myoclonus, and seizures. There are two types. Type 1 patients have normal physical features and beta-galactosidase levels. [medical-dictionary.thefreedictionary.com]

  Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing difficulty sitting, standing, or walking. [ghr.nlm.nih.gov]

  Martin JJ: A propos d’une nouvelle observation de ‘cherry-red spot myoclonus syndrome’. Acta Neurol Belg 1980;80:30–36. [karger.com]

  MIM 256550), that has been grouped in two forms: the milder type I, with myoclonus, ataxia and ocular cherry-red spots (the cherry-red spot-myoclonus syndrome), and the severe or dysmorphic type II (formerly mucolipidosis I; Fig. 1 ). with psychomotor [link.springer.com]

  Mental retardation, myoclonus, and cherry red spots are present. Hepatosplenomegaly is typically absent. [ismrd.org]

Several guidelines for treatment of psoriatic arthritis have been published. [secure.medicalletter.org]

Rapivab Marketed by: Biocryst Pharmaceuticals, Inc Indication: The FDA has approved Rapivab (peramivir), an influenza virus neuraminidase inhibitor, for the treatment of acute uncomplicated influenza in adults who have been symptomatic for no more than [pharmacytimes.com]

Treatment Treatment Options: Treatment is focused on symptom management. [disorders.eyes.arizona.edu]

Unfortunately, there is no specific treatment. It relies mainly on the prevention of specific symptoms. Are used, among other things, anticonvulsants, but are not always effective. [health-factbook.com]

We report: 1) nearly total deficiency of neuraminidase in mucolipidosis fibroblasts, 2) partial deficiency of this enzyme in leucocytes of one patient, 3) this decreased activity ceases to exist following Triton X-100 treatment, and 4) intermediary mean [wwww.unboundmedicine.com]

Medication to control seizures may be necessary, in some cases The prognosis of Sialidosis depends on the type of the disorder. [dovemed.com]

It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. [casereports.bmj.com]

Prognosis There appears to be no major effect on life expectancy but quality of life can be affected due to myoclonus and resulting mobility issues. [orpha.net]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Abstract Mucolipidosis type IV is a unique autosomal recessive progressive neurodegenerative disorder of unknown etiology. There is minimal facial dysmorphism and absence of organomegaly. Most patients reported are of Ashkenazi Jewish descent. [nature.com]

To date, its etiology remains mysterious but its aetiopathogenic mechanisms multifactorial. The offending factors are vascular, immunological, environmental and genetic. [gavinpublishers.com]

Etiology ST-1 is due to a mutation of the N-acetyl-alpha-neuraminidase-1 ( NEU1 ) gene (6p21) encoding the lysosomal enzyme neuraminidase, that initiates the degradation of sialoglycoconjugates in lysosomes. [orpha.net]

HUS OF UNKNOWN ETIOLOGY HUS of unknown etiology occurs often in the course of a systemic disease, a physiopathologic condition or after the assumption of drugs. [wjgnet.com]

Brady Abstract Mucolipidosis IV (MLIV) is an autosomal recessive disorder of unknown etiology characterized by severe visual impairment and psychomotor retardation. [pnas.org]

American Journal of Epidemiology. 160 : 169-976. Engeland, Anders; Børge, Tone; Selmer, Randi Marie; Tverdal, A. 2003. A height and body mass index in relation to total mortality. Epidemiology. 14 : 293-299. [uib.no]

An epidemiological and ... M, Bottachi E, D'Alessandro G, et al. [sok.helsebiblioteket.no]

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

Summary Epidemiology The prevalence of ST-1 is unknown but it is less frequent than sialidosis type 2 (ST-2, see this term). [orpha.net]

Epidemiology Frequency International Sialidosis is a rare disorder that has no racial predilection. [emedicine.medscape.com]

Pathophysiology [ edit ] The role of sialidase is to remove a particular form of sialic acid (a sugar molecule) from sugar-protein complexes (referred to as glycoproteins ), which allows the cell to function properly. [en.wikipedia.org]

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid Res Mol Biol. 2001. 69:81-114. [Medline]. Riches WG, Smuckler EA. A severe infantile mucolipidosis. [emedicine.medscape.com]

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid res Mol Biol. 2001;69:81-114. Mancini GM, Havelaar AC, Verheijen FW. Lysosomal transport disorders. J inherit Metab Dis. 2000;23:278-92. [rarediseases.org]

Pathophysiology Defects in the intracellular metabolism of cobalamin were initially investigated in complementation studies. [wjgnet.com]

Annual vaccination is safe and effective in preventing disease and in reducing its severity. [mdedge.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.ro]

Any of several mutations may prevent the binding of oseltamivir by preventing the formation of this pocket (Panel B); the oseltamivir-resistant virus can nonetheless bind to the host-cell sialic acid receptor and to zanamivir. [nejm.org]

It has been used to treat and prevent influenza A virus and influenza B virus infection in over 50 million people since 1999. [22facts.com]

Correction: Secondary Prevention of Stroke In the article on Secondary Prevention of Stroke in the December 8, 2014 issue of The Medical Letter (volume 56, page 125), the duration of treatment with clopidogrel plus aspirin in patients who... [secure.medicalletter.org]